A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14577996



Internal ID3906951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96032871..96034217hg38UCSC Ensembl
Innerchr12:96032921..96034167hg38UCSC Ensembl
Outerchr12:96032793..96034295hg38UCSC Ensembl
chr12:96426649..96427995hg19UCSC Ensembl
Innerchr12:96426699..96427945hg19UCSC Ensembl
Outerchr12:96426571..96428073hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630446
Supporting Variants
SamplesHG03559
Known GenesLTA4H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14577996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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