A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438251



Internal ID4493065
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629087
Supporting Variants
SamplesHG03995
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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