A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632646



Internal ID7019457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70349189..70549340hg38UCSC Ensembl
Innerchr13:70349222..70549308hg38UCSC Ensembl
Outerchr13:70349157..70549373hg38UCSC Ensembl
chr13:70923321..71123472hg19UCSC Ensembl
Innerchr13:70923354..71123440hg19UCSC Ensembl
Outerchr13:70923289..71123505hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38200152
hg19200152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14787654
SamplesHG02699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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