A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733492



Internal ID10317128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169325547..169325988hg38UCSC Ensembl
Outerchr6:169725642..169726083hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934905, essv6911504, essv6774734, essv6893667, essv6671374
SamplesSSM021, SSM031, SSM066, SSM015, SSM098
Known Genes
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)esv2733492
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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