A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629609



Internal ID7016430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57351439..57354257hg38UCSC Ensembl
Innerchr12:57351496..57354201hg38UCSC Ensembl
Outerchr12:57351383..57354314hg38UCSC Ensembl
chr12:57745222..57748040hg19UCSC Ensembl
Innerchr12:57745279..57747984hg19UCSC Ensembl
Outerchr12:57745166..57748097hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486790
SamplesHG03228
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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