A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732811



Internal ID10316447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142840063..142840746hg38UCSC Ensembl
Outerchr6:143161200..143161883hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754640, essv6969470, essv6841355, essv6734438, essv6837535, essv6748835, essv6963894, essv6833872, essv6740069, essv6855384, essv6875817, essv6737038, essv6765092, essv6743252, essv6761820, essv6860999, essv6934837, essv6760124, essv6751684
SamplesSSM008, SSM083, SSM027, SSM087, SSM050, SSM088, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM061, SSM082, SSM053, SSM052, SSM049, SSM056, SSM063
Known GenesHIVEP2
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)esv2732811
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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