A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630446



Internal ID7017264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96032871..96034217hg38UCSC Ensembl
Innerchr12:96032921..96034167hg38UCSC Ensembl
Outerchr12:96032793..96034295hg38UCSC Ensembl
chr12:96426649..96427995hg19UCSC Ensembl
Innerchr12:96426699..96427945hg19UCSC Ensembl
Outerchr12:96426571..96428073hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14577997, essv14577996, essv14577998
SamplesHG03559, NA19024, NA19475
Known GenesLTA4H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630446
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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