A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669962



Internal ID9589381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61241771..61244769hg38UCSC Ensembl
Outerchr17:61241614..61244922hg38UCSC Ensembl
Innerchr17:59319132..59322130hg19UCSC Ensembl
Outerchr17:59318975..59322283hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383309
hg193309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5643769, essv5545497, essv6331737, essv6156215, essv6147048
SamplesNA18606, HG00657, HG00500, NA18546, NA18535
Known GenesBCAS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669962
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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