A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630704



Internal ID7017519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108436047..108439874hg38UCSC Ensembl
Innerchr12:108436047..108439874hg38UCSC Ensembl
Outerchr12:108435893..108440012hg38UCSC Ensembl
chr12:108829824..108833651hg19UCSC Ensembl
Innerchr12:108829824..108833651hg19UCSC Ensembl
Outerchr12:108829670..108833789hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383828
hg193828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14603537, essv14603539, essv14603538, essv14603536
SamplesNA18574, NA19007, HG00557, NA18608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630704
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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