A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666266



Internal ID9585685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95240942..95241783hg38UCSC Ensembl
chr13:95893196..95894037hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5570376, essv6004218, essv5959549
SamplesHG00247, NA12843, HG01383
Known GenesABCC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666266
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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