A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14901199



Internal ID510517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112765420..112786776hg38UCSC Ensembl
Innerchr13:112765420..112786776hg38UCSC Ensembl
Outerchr13:112764920..112787276hg38UCSC Ensembl
chr13:113419734..113441090hg19UCSC Ensembl
Innerchr13:113419734..113441090hg19UCSC Ensembl
Outerchr13:113419234..113441590hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3821357
hg1921357
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633585
Supporting Variants
SamplesHG00182
Known GenesATP11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14901199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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