A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731879



Internal ID9966197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33065144..33107309hg38UCSC Ensembl
Outerchr6:33032921..33075086hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3842166
hg1942166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671098, essv6974769, essv6757395, essv6963730, essv6849125, essv6760932, essv6974768, essv6751591, essv6754540
SamplesSSM027, SSM086, SSM031, SSM057, SSM029, SSM008, SSM058, SSM059
Known GenesHLA-DPA1, HLA-DPB1
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)esv2731879
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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