A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731781



Internal ID9966099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30239933..30240542hg38UCSC Ensembl
Outerchr6:30207710..30208319hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881819, essv6869657, essv6730841, essv6762593, essv6943338, essv6759984, essv6760098, essv6748690, essv6739940
SamplesSSM008, SSM002, SSM023, SSM090, SSM047, SSM061, SSM062, SSM052, SSM056
Known GenesHCG17
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)esv2731781
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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