A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737999



Internal ID10321635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143322427..143323106hg38UCSC Ensembl
Outerchr8:144404597..144405276hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838121, essv6712528, essv6939785
SamplesSSM083, SSM042, SSM022
Known GenesTOP1MT
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)esv2737999
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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