A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909051



Internal ID4910867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113431952..113440673hg38UCSC Ensembl
Innerchr13:113432102..113440523hg38UCSC Ensembl
Outerchr13:113431802..113440823hg38UCSC Ensembl
chr13:114086267..114094988hg19UCSC Ensembl
Innerchr13:114086417..114094838hg19UCSC Ensembl
Outerchr13:114086117..114095138hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388722
hg198722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633609
Supporting Variants
SamplesHG02085
Known GenesADPRHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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