A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738001



Internal ID10321637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143323369..143324031hg38UCSC Ensembl
Outerchr8:144405539..144406201hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1240e201
Supporting Variantsessv6743647, essv6952678, essv6884739, essv6709058, essv6827157, essv6970190, essv6887590, essv6841936, essv6687865, essv6958319, essv6931252, essv6795474, essv6919615, essv6716243, essv6948526, essv6927461
SamplesSSM071, SSM024, SSM041, SSM028, SSM084, SSM096, SSM026, SSM017, SSM019, SSM035, SSM020, SSM053, SSM080, SSM095, SSM025, SSM043
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)esv2738001
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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