A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630593



Internal ID7017410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102509467..102511322hg38UCSC Ensembl
Innerchr12:102509469..102511320hg38UCSC Ensembl
Outerchr12:102509465..102511324hg38UCSC Ensembl
chr12:102903245..102905100hg19UCSC Ensembl
Innerchr12:102903247..102905098hg19UCSC Ensembl
Outerchr12:102903243..102905102hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14591227, essv14591230, essv14591231, essv14591228, essv14591229, essv14591226
SamplesHG03593, NA20884, HG03644, HG02724, HG03914, NA21088
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630593
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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