A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568571



Internal ID4134737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91528306..91535571hg38UCSC Ensembl
Innerchr12:91528337..91535540hg38UCSC Ensembl
Outerchr12:91528275..91535602hg38UCSC Ensembl
chr12:91922083..91929348hg19UCSC Ensembl
Innerchr12:91922114..91929317hg19UCSC Ensembl
Outerchr12:91922052..91929379hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg387266
hg197266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630362
Supporting Variants
SamplesHG03745
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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