A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474111



Internal ID6048523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46315432..46316674hg38UCSC Ensembl
Innerchr12:46315435..46316671hg38UCSC Ensembl
Outerchr12:46315429..46316677hg38UCSC Ensembl
chr12:46709215..46710457hg19UCSC Ensembl
Innerchr12:46709218..46710454hg19UCSC Ensembl
Outerchr12:46709212..46710460hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629401
Supporting Variants
SamplesNA19446
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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