A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629792



Internal ID6669931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65911213..65915003hg38UCSC Ensembl
Innerchr12:65911227..65914989hg38UCSC Ensembl
Outerchr12:65911199..65915017hg38UCSC Ensembl
chr12:66304993..66308783hg19UCSC Ensembl
Innerchr12:66305007..66308769hg19UCSC Ensembl
Outerchr12:66304979..66308797hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383791
hg193791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14515182, essv14515185, essv14515183, essv14515184
SamplesHG03977, NA20877, HG03862, HG04039
Known GenesHMGA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629792
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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