A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737794



Internal ID9972133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141497080..141497269hg38UCSC Ensembl
Outerchr8:142507180..142507369hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952656, essv6834412, essv6823089, essv6976116, essv6944287, essv6723955, essv6701853, essv6720164, essv6879110, essv6782962
SamplesSSM045, SSM079, SSM039, SSM093, SSM023, SSM029, SSM044, SSM068, SSM082, SSM025
Known GenesMROH5
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)esv2737794
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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