Variant Details

Variant: esv2672721

Internal ID

9938826

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:35247898..35249804	hg38	UCSC Ensembl
Outer	chr8:35247527..35250174	hg38	UCSC Ensembl
Inner	chr8:35105416..35107322	hg19	UCSC Ensembl
Outer	chr8:35105045..35107692	hg19	UCSC Ensembl

Cytoband

8p12

Allele length

Assembly	Allele length
hg38	2648
hg19	2648

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv1279e199

Supporting Variants

essv6220394, essv5732933, essv6128783, essv5996057, essv5455578, essv6292356, essv6265721, essv6410261, essv6577924, essv5985309, essv5955399, essv6270594, essv6579261, essv5510498, essv5731759, essv6574734, essv6044788, essv6348091, essv6192740, essv6578481, essv5825955, essv5593744, essv6412593, essv5808137, essv6439299, essv6281054, essv5683243, essv6262914, essv5557002, essv6037357, essv5759382, essv5900245, essv6543058, essv6508553, essv6381750, essv6015977, essv6013182, essv6490783, essv6375581, essv6391702, essv6465165, essv5782142, essv5677531, essv5902018, essv5784174, essv6282864, essv5609984, essv6263714, essv5899681, essv5706438, essv6223121, essv6568547, essv6328737, essv5801902, essv5964221, essv5452207, essv6413874, essv6396557, essv6582357, essv6105882, essv5416079, essv5786440, essv6588382, essv5589006, essv6204176, essv5850915, essv5559371, essv5966475, essv6543461, essv6343940, essv6335509, essv5456752, essv6552263, essv5839707, essv6518968, essv6120910, essv6236646, essv6083627, essv6010034, essv5562145, essv5576867, essv6273437, essv6230642, essv6182678, essv5413777, essv6031325, essv5746760, essv5997232, essv6404111, essv5624209, essv5942473, essv6504811, essv6077642, essv5835851, essv5749422, essv6572458, essv6496298, essv6168180, essv5654910, essv6432794, essv5946589, essv5723415, essv6505306, essv6241530, essv5859882, essv5622083, essv6046639, essv6373898, essv6591575, essv6296907, essv6177206, essv6357510, essv6523792, essv6014385, essv5965190, essv6518821, essv6306626, essv5605220, essv5894442, essv5778723, essv5912509, essv5845316, essv6398969, essv6179806, essv5705152, essv6308353, essv5640626, essv5528743, essv5668860, essv6283479, essv6202495, essv6473850, essv6066518, essv5411865, essv6369381, essv5942175, essv5401614, essv6523408, essv6525587, essv6331942

Samples

HG00593, HG00626, HG00403, HG01060, HG00650, HG00542, HG00442, HG01173, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG01052, HG01079, HG01188, HG01066, HG00640, HG00699, HG00566, HG00449, HG00654, HG01051, HG00693, HG00663, HG00641, HG01070, HG00589, HG00501, HG01167, HG00702, HG00689, HG00448, HG01168, HG00634, HG00736, HG00610, HG01083, HG00537, HG00590, HG00512, HG01069, HG01080, HG01067, HG00683, HG01170, HG01072, HG00534, HG00422, HG00705, HG00427, HG01198, HG00637, HG01048, HG00530, HG00419, HG00464, HG00543, HG01183, HG00560, HG00731, HG00629, HG00443, HG01187, HG01171, HG00596, HG00557, HG00428, HG00732, HG00653, HG00577, HG01095, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00740, HG01047, HG01102, HG01073, HG00651, HG00690, HG00404, HG00531, HG00479, HG01197, HG00684, HG01182, HG01101, HG00613, HG00525, HG00704, HG01107, HG01204, HG01075, HG00611, HG00476, HG01190, HG00625, HG00565, HG00580, HG00734, HG00638, HG01174, HG00473, HG00607, HG01108, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG01055, HG00698, HG00595, HG00472, HG01082, HG00628, HG00554, HG01191, HG01061, HG00553, HG00437, HG00581

Known Genes

UNC5D

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2672721

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	140
Observed Complex	0
Frequency	n/a