A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666483



Internal ID9932588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10657761..10660647hg38UCSC Ensembl
chr6:10657994..10660880hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg382887
hg192887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1075e199
Supporting Variantsessv6290098, essv5906916, essv6522291, essv5619576, essv6323745, essv5712125, essv6564409, essv5964640, essv6206834, essv6020508, essv5862204, essv6440581, essv5951867, essv5739754, essv6592102, essv6255124, essv6077732, essv6282522, essv6323890, essv5761528, essv6206790, essv6297245, essv5798765, essv5465409, essv5494765, essv6250359, essv6201255, essv5636841, essv5565919, essv6452958, essv6206612, essv6318095, essv6337718, essv5708498
SamplesNA19701, HG00542, HG00671, NA18508, NA18486, HG00566, NA18530, NA18616, NA19446, NA19373, NA18923, NA19904, NA19372, NA19901, NA19451, NA19908, NA18538, HG01171, NA19347, NA19236, NA18871, NA18534, NA19000, NA20282, NA18523, NA19395, NA19436, NA18615, NA19818, HG00343, NA19900, NA18488, NA19074, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666483
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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