A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14898036



Internal ID1412077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110780652..110783958hg38UCSC Ensembl
Innerchr13:110780664..110783947hg38UCSC Ensembl
Outerchr13:110780641..110783970hg38UCSC Ensembl
chr13:111432999..111436305hg19UCSC Ensembl
Innerchr13:111433011..111436294hg19UCSC Ensembl
Outerchr13:111432988..111436317hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383307
hg193307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633550
Supporting Variants
SamplesHG01280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14898036
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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