A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630129



Internal ID7016949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81120342..81126142hg38UCSC Ensembl
Innerchr12:81120342..81126142hg38UCSC Ensembl
Outerchr12:81120075..81126422hg38UCSC Ensembl
chr12:81514121..81519921hg19UCSC Ensembl
Innerchr12:81514121..81519921hg19UCSC Ensembl
Outerchr12:81513854..81520201hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14549913, essv14549912, essv14549911, essv14549914, essv14549910
SamplesHG04210, NA20853, HG04070, NA20866, HG04006
Known GenesACSS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630129
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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