A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630390



Internal ID7017209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93024113..93026081hg38UCSC Ensembl
Innerchr12:93024131..93026063hg38UCSC Ensembl
Outerchr12:93024095..93026099hg38UCSC Ensembl
chr12:93417889..93419857hg19UCSC Ensembl
Innerchr12:93417907..93419839hg19UCSC Ensembl
Outerchr12:93417871..93419875hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381969
hg191969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14570333, essv14570334, essv14570336, essv14570331, essv14570335, essv14570332
SamplesNA18881, HG03515, NA19131, NA19175, HG03202, NA19256
Known GenesLOC643339
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630390
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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