A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674811



Internal ID9940916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178959780..178964295hg38UCSC Ensembl
chr5:178386781..178391296hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384516
hg194516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1065e199
Supporting Variantsessv6247770, essv5534881, essv6423632, essv6337400, essv6123626, essv6587314, essv6513353, essv5583894, essv5922280, essv5649749, essv5854500, essv5416455, essv6051979, essv6026655, essv5978894, essv5966388, essv5698835, essv5804632, essv6329529, essv5798153, essv5460288, essv5479231, essv6082561, essv5803859, essv5796800, essv6540299, essv5401804, essv6426900, essv6181507, essv6567688, essv5888518, essv6546577, essv6411389, essv5822074, essv6279386, essv5749855, essv6220747, essv6317046, essv5922731, essv5806605, essv5409704, essv6241803, essv6134383, essv6069204
SamplesHG00650, HG00671, HG01374, NA18603, HG00449, NA18602, NA18550, HG00448, NA18547, HG00634, NA19062, NA18582, NA19088, HG00590, HG01134, NA18986, NA19002, NA18985, HG00419, NA18638, NA19007, HG00543, HG00701, HG00436, HG00583, NA19081, HG00500, HG00708, HG00692, HG00635, NA18548, NA19059, NA19012, HG00476, NA18559, NA19085, NA18610, HG00620, NA19078, HG00513, HG00421, NA18987, NA18983, HG00628
Known GenesZNF454
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674811
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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