A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14344419



Internal ID1371762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5549126..5551632hg38UCSC Ensembl
Innerchr12:5549146..5551613hg38UCSC Ensembl
Outerchr12:5549107..5551652hg38UCSC Ensembl
chr12:5658292..5660798hg19UCSC Ensembl
Innerchr12:5658312..5660779hg19UCSC Ensembl
Outerchr12:5658273..5660818hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628386
Supporting Variants
SamplesHG01242
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14344419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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