A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14514577



Internal ID6391192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64316134..64327480hg38UCSC Ensembl
Innerchr12:64316134..64327480hg38UCSC Ensembl
Outerchr12:64315634..64327980hg38UCSC Ensembl
chr12:64709914..64721260hg19UCSC Ensembl
Innerchr12:64709914..64721260hg19UCSC Ensembl
Outerchr12:64709414..64721760hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3811347
hg1911347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629772
Supporting Variants
SamplesNA20339
Known GenesC12orf56
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14514577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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