A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976154



Internal ID9735246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144612175..144612273hg38UCSC Ensembl
Outerchr8:145837560..145837658hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738085, esv2738083, esv2738082
Supporting Variants
SamplesSSM029
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)essv6976154
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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