A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746096



Internal ID10327066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:77981808..77982658hg38UCSC Ensembl
Outerchr12:78375588..78376438hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857261, essv6673208, essv6965831, essv6959325, essv6787796, essv6851247, essv6765794, essv6977258
SamplesSSM027, SSM087, SSM069, SSM029, SSM026, SSM031, SSM086, SSM063
Known GenesNAV3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2746096
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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