A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659637



Internal ID9579056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47917630..47921905hg38UCSC Ensembl
Outerchr13:47917473..47922058hg38UCSC Ensembl
Innerchr13:48491765..48496040hg19UCSC Ensembl
Outerchr13:48491608..48496193hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384586
hg194586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6353113, essv5924803
SamplesNA18502, HG00554
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659637
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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