A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675799



Internal ID9941904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2810705..2817998hg38UCSC Ensembl
Outerchr17:2810668..2818048hg38UCSC Ensembl
Innerchr17:2713999..2721292hg19UCSC Ensembl
Outerchr17:2713962..2721342hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387381
hg197381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524e199
Supporting Variantsessv6489462, essv5976806
SamplesHG00187, HG00267
Known GenesRAP1GAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675799
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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