A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14460398



Internal ID760761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42773917..42785113hg38UCSC Ensembl
chr12:43167719..43178915hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811197
hg1911197
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629334
Supporting Variants
SamplesHG00360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14460398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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