A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774713



Internal ID9834038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167250203..167408658hg38UCSC Ensembl
Outerchr6:167663691..167822146hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38158456
hg19158456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733230
Supporting Variants
SamplesSSM066
Known GenesTCP10, TTLL2, UNC93A
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)essv6774713
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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