Variant Details

Variant: esv3642117

Internal ID

6682198

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr18:31097300..31097924	hg38	UCSC Ensembl
Inner	chr18:31097304..31097920	hg38	UCSC Ensembl
Outer	chr18:31097296..31097928	hg38	UCSC Ensembl
	chr18:28677263..28677887	hg19	UCSC Ensembl
Inner	chr18:28677267..28677883	hg19	UCSC Ensembl
Outer	chr18:28677259..28677891	hg19	UCSC Ensembl

Cytoband

18q12.1

Allele length

Assembly	Allele length
hg38	625
hg19	625

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15835513, essv15835457, essv15835459, essv15835455, essv15835453, essv15835493, essv15835469, essv15835452, essv15835451, essv15835516, essv15835499, essv15835487, essv15835471, essv15835470, essv15835495, essv15835477, essv15835480, essv15835460, essv15835454, essv15835511, essv15835478, essv15835517, essv15835456, essv15835509, essv15835503, essv15835505, essv15835466, essv15835510, essv15835512, essv15835474, essv15835497, essv15835449, essv15835476, essv15835465, essv15835461, essv15835464, essv15835500, essv15835518, essv15835463, essv15835462, essv15835448, essv15835501, essv15835468, essv15835473, essv15835490, essv15835485, essv15835483, essv15835515, essv15835481, essv15835475, essv15835484, essv15835479, essv15835502, essv15835467, essv15835506, essv15835492, essv15835488, essv15835504, essv15835486, essv15835494, essv15835491, essv15835514, essv15835489, essv15835458, essv15835498, essv15835450, essv15835472, essv15835507, essv15835482, essv15835508, essv15835496

Samples

HG03514, HG01985, HG02610, HG03484, HG01885, NA19020, HG02012, NA20321, NA18504, HG03518, HG03297, NA19098, NA20356, HG03069, HG03199, HG03074, NA19379, HG03135, NA20320, NA18923, HG02645, HG03479, NA19904, HG02111, NA19922, NA18874, HG03268, NA19024, HG03267, NA18908, HG02442, HG03061, NA19175, HG02582, NA19152, NA19184, NA19913, NA18915, NA18910, HG01880, HG01323, HG00551, HG03124, HG02757, NA19118, HG02445, HG03388, HG01241, NA19149, NA19454, HG03458, NA19331, NA20351, NA19439, NA19324, HG01108, HG03084, NA19376, NA19328, HG03565, HG03432, HG02970, HG02938, NA19474, HG03351, HG02676, NA19121, HG03376, HG02465, NA19153, HG02760

Known Genes

DSC2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3642117

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	71
Observed Complex	0
Frequency	n/a