A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733577



Internal ID10317213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170169034..170169804hg38UCSC Ensembl
Outerchr6:170484258..170485028hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712003, essv6794834, essv6727281, essv6943625, essv6705189, essv6934914, essv6975094, essv6786578
SamplesSSM071, SSM046, SSM042, SSM023, SSM021, SSM069, SSM029, SSM040
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)esv2733577
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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