A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628763



Internal ID7015586
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401396, essv14401395
SamplesHG03484, HG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628763
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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