A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630572



Internal ID7017389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101456168..101458508hg38UCSC Ensembl
Innerchr12:101456183..101458493hg38UCSC Ensembl
Outerchr12:101456153..101458523hg38UCSC Ensembl
chr12:101849946..101852286hg19UCSC Ensembl
Innerchr12:101849961..101852271hg19UCSC Ensembl
Outerchr12:101849931..101852301hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14590095, essv14590097, essv14590099, essv14590098, essv14590096
SamplesNA21127, NA21135, NA21118, NA21142, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630572
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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