A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731856



Internal ID10315492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32617336..32617698hg38UCSC Ensembl
Outerchr6:32585113..32585475hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918810, essv6844942, essv6943420, essv6678611, essv6676556, essv6888376, essv6860853, essv6830172, essv6762634, essv6963712
SamplesSSM027, SSM088, SSM002, SSM023, SSM062, SSM017, SSM032, SSM085, SSM081, SSM005
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)esv2731856
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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