A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14712209



Internal ID4714025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45762455..45877438hg38UCSC Ensembl
Innerchr13:45762473..45877421hg38UCSC Ensembl
Outerchr13:45762438..45877456hg38UCSC Ensembl
chr13:46336590..46451573hg19UCSC Ensembl
Innerchr13:46336608..46451556hg19UCSC Ensembl
Outerchr13:46336573..46451591hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38114984
hg19114984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631968
Supporting Variants
SamplesHG01259
Known GenesSIAH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14712209
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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