A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14333443



Internal ID4335259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1256416..1257208hg38UCSC Ensembl
Innerchr12:1256417..1257208hg38UCSC Ensembl
Outerchr12:1256416..1257209hg38UCSC Ensembl
chr12:1365582..1366374hg19UCSC Ensembl
Innerchr12:1365583..1366374hg19UCSC Ensembl
Outerchr12:1365582..1366375hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628274
Supporting Variants
SamplesHG00530
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14333443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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