A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732613



Internal ID10316249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117525375..117529551hg38UCSC Ensembl
Outerchr6:117846538..117850714hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg384177
hg194177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705110, essv6679454, essv6757461, essv6746004, essv6907663, essv6960484, essv6818334, essv6778280, essv6872836, essv6947885
SamplesSSM059, SSM024, SSM067, SSM001, SSM014, SSM040, SSM078, SSM005, SSM091, SSM055
Known GenesDCBLD1
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)esv2732613
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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