A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676105



Internal ID9595524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8245941..8246078hg38UCSC Ensembl
chr17:8149259..8149396hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5733075, essv6160660, essv6495962, essv6164858, essv6214015, essv5687514, essv6425865, essv5655840, essv5879716, essv5469344, essv5420994, essv6561901, essv5958131, essv6389863, essv5744519, essv6475112, essv5722371, essv6555096, essv6569618, essv6529877, essv5990410, essv6128023, essv5404294, essv6158266, essv5853962, essv6260891, essv6439906, essv6397176, essv6152653, essv6529212, essv6169847, essv5477111, essv5456936, essv6355528, essv5797482, essv6053922, essv6160325, essv5658435, essv6151543, essv6130010, essv5577646, essv6061258, essv6355878, essv5951224, essv5818990, essv6289225, essv6377525, essv5576608, essv6214031, essv6021532, essv5703576, essv6330872, essv5805090, essv6330824, essv5483568, essv5853620, essv6154432, essv6288025, essv5775476, essv5515695, essv5437501, essv6023596, essv6126186, essv5779585, essv5517115, essv5564536, essv5993134, essv5513841, essv6471085, essv5885065, essv5959440, essv6521055, essv6524249, essv6434163, essv5716378
SamplesHG00613, NA19312, HG00537, HG00536, HG00607, NA18595, HG00619, HG01250, NA18530, HG00705, HG00437, HG01173, NA18612, HG00449, HG01079, HG01389, HG00657, HG00428, HG00475, HG00375, HG01350, NA18546, NA19379, HG00683, HG00581, HG00651, HG00557, NA19355, HG00253, HG00699, HG00543, NA18559, NA18624, HG00421, HG00583, NA18566, HG00692, HG00689, HG01124, NA18638, HG00419, NA18637, HG00584, NA19377, NA19786, NA18620, HG00653, HG00268, NA19375, HG00501, HG00232, HG01356, HG00524, HG00512, HG00525, NA18562, HG01060, NA18579, HG00589, NA18597, NA18599, HG00650, HG00580, HG00448, NA18577, HG00656, HG01366, HG00422, NA19371, HG00693, NA18549, HG00684, HG00336, HG00702, HG01067
Known GenesCTC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676105
Frequency
Sample Size1151
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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