A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732826



Internal ID10316462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144807354..144818062hg38UCSC Ensembl
Outerchr6:145128490..145139198hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3810709
hg1910709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679665, essv6687341, essv6740073, essv6969474, essv6754642, essv6704532, essv6929629, essv6934839, essv6704521
SamplesSSM058, SSM028, SSM021, SSM035, SSM003, SSM006, SSM005, SSM052
Known GenesUTRN
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)esv2732826
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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