A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671173



Internal ID9937278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7337829..7340247hg38UCSC Ensembl
chr17:7241148..7243566hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5847866, essv5637861, essv6567438, essv6351242, essv5808279, essv5721040, essv6005268
SamplesNA18606, NA18597, HG00634, HG00537, HG00422, NA18566, NA18609
Known GenesACAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671173
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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