A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642117



Internal ID6682198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31097300..31097924hg38UCSC Ensembl
Innerchr18:31097304..31097920hg38UCSC Ensembl
Outerchr18:31097296..31097928hg38UCSC Ensembl
chr18:28677263..28677887hg19UCSC Ensembl
Innerchr18:28677267..28677883hg19UCSC Ensembl
Outerchr18:28677259..28677891hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15835465, essv15835466, essv15835462, essv15835511, essv15835460, essv15835501, essv15835451, essv15835468, essv15835516, essv15835486, essv15835513, essv15835475, essv15835478, essv15835496, essv15835480, essv15835454, essv15835488, essv15835479, essv15835506, essv15835457, essv15835448, essv15835463, essv15835510, essv15835500, essv15835450, essv15835515, essv15835487, essv15835476, essv15835494, essv15835471, essv15835470, essv15835482, essv15835505, essv15835498, essv15835509, essv15835485, essv15835461, essv15835455, essv15835493, essv15835459, essv15835453, essv15835512, essv15835477, essv15835456, essv15835473, essv15835514, essv15835503, essv15835490, essv15835483, essv15835508, essv15835469, essv15835449, essv15835484, essv15835495, essv15835518, essv15835464, essv15835504, essv15835472, essv15835481, essv15835507, essv15835458, essv15835499, essv15835452, essv15835489, essv15835517, essv15835474, essv15835502, essv15835467, essv15835497, essv15835492, essv15835491
SamplesHG03135, NA19913, NA19152, NA20351, HG01241, NA19904, HG02970, HG03351, HG03479, HG00551, HG03084, NA18874, HG01885, NA19149, NA19331, HG03124, NA20321, NA19184, HG03432, HG03458, NA19379, HG02676, HG02760, NA19474, HG03199, HG03268, HG03376, NA20320, NA20356, HG03484, NA19020, HG02012, HG03565, NA19324, HG02757, NA19153, HG02442, NA19024, NA18923, NA19098, HG03514, HG02938, NA18504, NA19175, HG02111, HG03518, HG03069, NA19328, NA18910, HG03297, HG01880, HG02582, NA19376, HG02645, NA18915, HG03061, HG03267, HG02465, HG03074, HG01323, HG01108, NA19118, HG02445, HG01985, HG03388, NA18908, NA19454, NA19121, NA19922, NA19439, HG02610
Known GenesDSC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642117
Frequency
Sample Size2504
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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