A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14401395



Internal ID3476579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19534444..19541429hg38UCSC Ensembl
Innerchr12:19534507..19541366hg38UCSC Ensembl
Outerchr12:19534381..19541492hg38UCSC Ensembl
chr12:19687378..19694363hg19UCSC Ensembl
Innerchr12:19687441..19694300hg19UCSC Ensembl
Outerchr12:19687315..19694426hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg386986
hg196986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628763
Supporting Variants
SamplesHG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14401395
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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