A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736096



Internal ID10319732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:943349..943956hg38UCSC Ensembl
Outerchr8:893349..893956hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734740, essv6746326, essv6799461
SamplesSSM072, SSM055, SSM049
Known GenesERICH1-AS1
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)esv2736096
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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