A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14346961



Internal ID4348777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7346649..7349082hg38UCSC Ensembl
Innerchr12:7346667..7349064hg38UCSC Ensembl
Outerchr12:7346631..7349100hg38UCSC Ensembl
chr12:7499245..7501678hg19UCSC Ensembl
Innerchr12:7499263..7501660hg19UCSC Ensembl
Outerchr12:7499227..7501696hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382434
hg192434
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628419
Supporting Variants
SamplesHG00181
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14346961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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