A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737982



Internal ID9972321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143273416..143274087hg38UCSC Ensembl
Outerchr8:144355586..144356257hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1237e201
Supporting Variantsessv6768094, essv6740606, essv6948525, essv6931249, essv6799648, essv6970188, essv6795473, essv6782980, essv6912053, essv6944309, essv6850332, essv6791292, essv6771544, essv6939783, essv6923755, essv6919614, essv6827155, essv6694969, essv6672268, essv6841935, essv6958314, essv6838119
SamplesSSM083, SSM071, SSM024, SSM064, SSM065, SSM023, SSM028, SSM084, SSM018, SSM026, SSM017, SSM031, SSM086, SSM068, SSM072, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM052
Known GenesGLI4
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)esv2737982
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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