A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631019



Internal ID7017833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124634693..124639927hg38UCSC Ensembl
Innerchr12:124634693..124639927hg38UCSC Ensembl
Outerchr12:124634532..124640097hg38UCSC Ensembl
chr12:125119239..125124473hg19UCSC Ensembl
Innerchr12:125119239..125124473hg19UCSC Ensembl
Outerchr12:125119078..125124643hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385235
hg195235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14623639
SamplesNA19236
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631019
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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