A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735054



Internal ID10318690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:115047438..115048322hg38UCSC Ensembl
Outerchr7:114687492..114688376hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774879, essv6890504, essv6866004, essv6861285, essv6762834, essv6855736, essv6818628
SamplesSSM087, SSM097, SSM088, SSM062, SSM089, SSM066, SSM078
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)esv2735054
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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