A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14515184



Internal ID4517000
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629792
Supporting Variants
SamplesHG04039
Known GenesHMGA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14515184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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