A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732530



Internal ID9966849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104774087..104774489hg38UCSC Ensembl
Outerchr6:105221962..105222364hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690536, essv6715603, essv6745997
SamplesSSM036, SSM055, SSM043
Known GenesHACE1
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)esv2732530
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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