A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675982



Internal ID9942087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:21767704..21780810hg38UCSC Ensembl
Outerchr8:21767333..21781180hg38UCSC Ensembl
Innerchr8:21625216..21638322hg19UCSC Ensembl
Outerchr8:21624845..21638692hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3813848
hg1913848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5817092, essv5875160, essv6400085, essv5651499, essv5732444, essv6434957, essv6421760, essv6531262, essv6325553, essv5936157, essv5626003, essv6297320, essv5559008, essv5532433, essv6356149, essv6561551, essv6168208, essv6145050, essv5511176, essv5593661, essv5868863, essv5678268, essv6262612, essv5771824, essv5591592, essv6543348, essv5513108, essv5622161, essv6069727, essv5484700, essv5551160, essv5635710, essv5451214, essv6086366, essv6006231, essv6476625, essv6135352, essv6582961, essv6069677, essv5671710, essv6463257, essv5892030, essv6082440, essv6113235, essv5963044, essv5829916, essv6442804, essv6575268, essv6235974, essv5711143, essv5908124, essv5544569, essv5923908, essv5705659, essv6057847, essv6351445, essv5507729, essv5523099, essv6591778, essv6549877, essv6328895, essv5822938, essv6476422, essv5823833, essv5423427, essv5947418, essv5456466, essv5534303, essv6281777, essv6378263, essv6082021, essv5744639, essv5868175, essv5655643, essv5876251, essv5953125, essv5677396, essv6088422, essv5516332, essv6464552, essv6003609, essv5559476, essv6374742, essv5588314, essv5704483, essv6120440, essv6201804, essv5472587, essv5617981, essv6504201, essv5484363, essv6088996
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesGFRA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675982
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer