A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737409



Internal ID10321045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107361028..107361857hg38UCSC Ensembl
Outerchr8:108373256..108374085hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694904, essv6734811, essv6720114, essv6757862, essv6939723, essv6755081, essv6766843, essv6746413, essv6737468, essv6964819, essv6763023, essv6743614, essv6752132, essv6740565, essv6860987
SamplesSSM059, SSM008, SSM027, SSM011, SSM050, SSM057, SSM058, SSM062, SSM044, SSM053, SSM037, SSM022, SSM055, SSM052, SSM049
Known GenesANGPT1
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)esv2737409
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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