A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732394



Internal ID9966713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:88053176..88053664hg38UCSC Ensembl
Outerchr6:88762894..88763382hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939077
SamplesSSM022
Known GenesSPACA1
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)esv2732394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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