A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14548355



Internal ID963589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80119704..80154646hg38UCSC Ensembl
Innerchr12:80119704..80154646hg38UCSC Ensembl
Outerchr12:80119204..80155146hg38UCSC Ensembl
chr12:80513484..80548426hg19UCSC Ensembl
Innerchr12:80513484..80548426hg19UCSC Ensembl
Outerchr12:80512984..80548926hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3834943
hg1934943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630103
Supporting Variants
SamplesHG00593
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14548355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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