A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6861740



Internal ID9911936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144612189..144612245hg38UCSC Ensembl
Outerchr8:145837574..145837630hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738083, esv2738086, esv2738087, esv2738085, esv2738082
Supporting Variants
SamplesSSM088
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)essv6861740
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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