A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628835



Internal ID7015657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22556471..22571194hg38UCSC Ensembl
Innerchr12:22556521..22571144hg38UCSC Ensembl
Outerchr12:22556421..22571244hg38UCSC Ensembl
chr12:22709405..22724128hg19UCSC Ensembl
Innerchr12:22709455..22724078hg19UCSC Ensembl
Outerchr12:22709355..22724178hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3814724
hg1914724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410131
SamplesHG03788
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628835
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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