A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14432438



Internal ID6263017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31038557..31040199hg38UCSC Ensembl
Innerchr12:31038573..31040184hg38UCSC Ensembl
Outerchr12:31038542..31040215hg38UCSC Ensembl
chr12:31191491..31193133hg19UCSC Ensembl
Innerchr12:31191507..31193118hg19UCSC Ensembl
Outerchr12:31191476..31193149hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629033
Supporting Variants
SamplesNA19783
Known GenesDDX11-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14432438
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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