A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630179



Internal ID7016998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83386895..83391677hg38UCSC Ensembl
Innerchr12:83386899..83391673hg38UCSC Ensembl
Outerchr12:83386891..83391681hg38UCSC Ensembl
chr12:83780674..83785456hg19UCSC Ensembl
Innerchr12:83780678..83785452hg19UCSC Ensembl
Outerchr12:83780670..83785460hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg384783
hg194783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14552061, essv14552062, essv14552066, essv14552065, essv14552067, essv14552063, essv14552064, essv14552068
SamplesNA19378, NA19107, NA20355, HG03457, NA19360, HG03565, NA20334, HG03162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630179
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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