A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668003



Internal ID9934108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77933125..77933913hg38UCSC Ensembl
Outerchr17:77933086..77933970hg38UCSC Ensembl
Innerchr17:75929207..75929995hg19UCSC Ensembl
Outerchr17:75929168..75930052hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5533643, essv6389866, essv6538384, essv6067691, essv5469364, essv5817692, essv5972765, essv6431741, essv6375325, essv6242421, essv6024055, essv5974061, essv5812293, essv6114668
SamplesNA12842, NA18603, NA18596, NA18988, NA18635, NA18557, NA19670, HG00475, HG00344, HG00273, HG00140, NA18542, HG00119, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668003
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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