A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679454



Internal ID9994743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117525375..117529476hg38UCSC Ensembl
Outerchr6:117846538..117850639hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg384102
hg194102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732613
Supporting Variants
SamplesSSM005
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)essv6679454
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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