A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631940



Internal ID7018750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44821871..44823082hg38UCSC Ensembl
Innerchr13:44821873..44823080hg38UCSC Ensembl
Outerchr13:44821869..44823084hg38UCSC Ensembl
chr13:45396007..45397218hg19UCSC Ensembl
Innerchr13:45396009..45397216hg19UCSC Ensembl
Outerchr13:45396005..45397220hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg381212
hg191212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710596, essv14710595
SamplesNA19440, HG02308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631940
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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