A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14336180



Internal ID4337996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1815239..1815717hg38UCSC Ensembl
Innerchr12:1815247..1815710hg38UCSC Ensembl
Outerchr12:1815232..1815725hg38UCSC Ensembl
chr12:1924405..1924883hg19UCSC Ensembl
Innerchr12:1924413..1924876hg19UCSC Ensembl
Outerchr12:1924398..1924891hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628294
Supporting Variants
SamplesNA19917
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14336180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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