A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438234



Internal ID6560616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32487618..32494699hg38UCSC Ensembl
Innerchr12:32487618..32494699hg38UCSC Ensembl
Outerchr12:32487539..32494787hg38UCSC Ensembl
chr12:32640552..32647633hg19UCSC Ensembl
Innerchr12:32640552..32647633hg19UCSC Ensembl
Outerchr12:32640473..32647721hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387082
hg197082
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629081
Supporting Variants
SamplesNA20756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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