A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629883



Internal ID6670022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70223601..70224989hg38UCSC Ensembl
Innerchr12:70223651..70224939hg38UCSC Ensembl
Outerchr12:70223495..70225095hg38UCSC Ensembl
chr12:70617381..70618769hg19UCSC Ensembl
Innerchr12:70617431..70618719hg19UCSC Ensembl
Outerchr12:70617275..70618875hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14522122, essv14522123
SamplesNA19024, NA20807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629883
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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