A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14899362



Internal ID2901729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112036666..112044370hg38UCSC Ensembl
Innerchr13:112036666..112044370hg38UCSC Ensembl
Outerchr13:112036545..112044638hg38UCSC Ensembl
chr13:112690980..112698684hg19UCSC Ensembl
Innerchr13:112690980..112698684hg19UCSC Ensembl
Outerchr13:112690859..112698952hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387705
hg197705
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633572
Supporting Variants
SamplesHG02571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14899362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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