A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733522



Internal ID10317158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169765914..169766001hg38UCSC Ensembl
Outerchr6:170166010..170166097hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818426, essv6865780, essv6963998, essv6861053
SamplesSSM027, SSM088, SSM089, SSM078
Known GenesERMARD
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)esv2733522
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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