A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737042



Internal ID10320678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58163160..58163629hg38UCSC Ensembl
Outerchr8:59075719..59076188hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1208e201
Supporting Variantsessv6818951, essv6716171, essv6881887, essv6733710, essv6681015, essv6845473, essv6919532, essv6911976, essv6939689, essv6893610, essv6684553, essv6970097, essv6856212, essv6866357, essv6958147
SamplesSSM087, SSM028, SSM026, SSM089, SSM017, SSM094, SSM033, SSM085, SSM007, SSM015, SSM078, SSM022, SSM034, SSM043, SSM012
Known Genes
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)esv2737042
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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