A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629087



Internal ID7015909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32676914..32678805hg38UCSC Ensembl
Innerchr12:32676953..32678767hg38UCSC Ensembl
Outerchr12:32676876..32678844hg38UCSC Ensembl
chr12:32829848..32831739hg19UCSC Ensembl
Innerchr12:32829887..32831701hg19UCSC Ensembl
Outerchr12:32829810..32831778hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381892
hg191892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438252, essv14438251
SamplesHG03995, NA21141
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629087
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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