A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672896



Internal ID9939001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60576355..60579311hg38UCSC Ensembl
Outerchr17:60575984..60579681hg38UCSC Ensembl
Innerchr17:58653716..58656672hg19UCSC Ensembl
Outerchr17:58653345..58657042hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383698
hg193698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6340771, essv5847876, essv5681960, essv6032942, essv6138818, essv6186137, essv6478284, essv6229474, essv6470294, essv6010709, essv5829815, essv6341707, essv6154699, essv5782365, essv5654478
SamplesNA19355, NA19443, NA19446, NA19457, NA19445, NA19451, NA19455, NA19453, NA19375, NA19434, NA19360, NA19472, NA19430, NA19463, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672896
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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