A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14579283



Internal ID2961579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96582022..96583533hg38UCSC Ensembl
Innerchr12:96582024..96583532hg38UCSC Ensembl
Outerchr12:96582021..96583535hg38UCSC Ensembl
chr12:96975800..96977311hg19UCSC Ensembl
Innerchr12:96975802..96977310hg19UCSC Ensembl
Outerchr12:96975799..96977313hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381512
hg191512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630455
Supporting Variants
SamplesHG02614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14579283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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