A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737792



Internal ID9972131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141492294..141492983hg38UCSC Ensembl
Outerchr8:142502394..142503083hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799631, essv6935499, essv6731566, essv6948509, essv6838101, essv6716223, essv6912036, essv6841918, essv6795449, essv6915665, essv6830806
SamplesSSM083, SSM071, SSM024, SSM084, SSM021, SSM047, SSM081, SSM072, SSM015, SSM016, SSM043
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)esv2737792
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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