A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731849



Internal ID10315485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32591502..32591669hg38UCSC Ensembl
Outerchr6:32559279..32559446hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811298, essv6814306, essv6899685, essv6860845, essv6711816, essv6844913, essv6886991, essv6830150, essv6805429, essv6884214, essv6708413, essv6683982
SamplesSSM100, SSM074, SSM042, SSM088, SSM041, SSM096, SSM085, SSM081, SSM077, SSM076, SSM095, SSM034
Known Genes
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)esv2731849
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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