A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664779



Internal ID9930884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41808767..41809486hg38UCSC Ensembl
Outerchr17:41808610..41809639hg38UCSC Ensembl
Innerchr17:39965019..39965738hg19UCSC Ensembl
Outerchr17:39964862..39965891hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6210749, essv6395205
SamplesNA19379, NA19404
Known GenesLEPREL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664779
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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