A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14514575



Internal ID6391040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64289771..64312410hg38UCSC Ensembl
Innerchr12:64289771..64312410hg38UCSC Ensembl
Outerchr12:64289271..64312910hg38UCSC Ensembl
chr12:64683551..64706190hg19UCSC Ensembl
Innerchr12:64683551..64706190hg19UCSC Ensembl
Outerchr12:64683051..64706690hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3822640
hg1922640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629770
Supporting Variants
SamplesNA20339
Known GenesC12orf56
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14514575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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