A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737303



Internal ID9971640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:92570767..92571617hg38UCSC Ensembl
Outerchr8:93582995..93583845hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923698, essv6935441, essv6667920, essv6778864, essv6911997, essv6766743
SamplesSSM008, SSM021, SSM018, SSM067, SSM015, SSM030
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)esv2737303
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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