A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731825



Internal ID9966143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32011073..32044089hg38UCSC Ensembl
Outerchr6:31978850..32011866hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3833017
hg1933017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754483, essv6667519
SamplesSSM058, SSM030
Known GenesC4A, C4B, C4B_2, CYP21A2, STK19, TNXA, TNXB
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)esv2731825
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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