A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633587



Internal ID7020396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112800098..112802422hg38UCSC Ensembl
Innerchr13:112800098..112802422hg38UCSC Ensembl
Outerchr13:112799867..112802677hg38UCSC Ensembl
chr13:113454412..113456736hg19UCSC Ensembl
Innerchr13:113454412..113456736hg19UCSC Ensembl
Outerchr13:113454181..113456991hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14901226
SamplesHG00707
Known GenesATP11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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