A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667654



Internal ID9933759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73220483..73221544hg38UCSC Ensembl
chr17:71216622..71217683hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6509793, essv6375022, essv6015738, essv5657388, essv6174745, essv6562889, essv6247715, essv6182986, essv5438887, essv5891547, essv5747640, essv6074508, essv5819378, essv5692206, essv5922486, essv5839153, essv5637784, essv6240349, essv5984425, essv5887692, essv5559385
SamplesNA19701, NA19914, NA19379, NA18489, NA19313, NA18868, NA19372, NA19172, NA19471, NA18908, NA18867, HG00732, NA19455, NA19236, NA19982, NA18499, NA19712, NA19818, NA19398, NA19346, NA19431
Known GenesFAM104A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667654
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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