A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782988



Internal ID9841387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144531269..144531438hg38UCSC Ensembl
Outerchr8:145756653..145756822hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738070, esv2738069, esv2738068
Supporting Variants
SamplesSSM068
Known GenesARHGAP39
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)essv6782988
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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