A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734703



Internal ID9969032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77690199..77692971hg38UCSC Ensembl
Outerchr7:77319516..77322288hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382773
hg192773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751832, essv6896973
SamplesSSM057, SSM099
Known GenesRSBN1L-AS1
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)esv2734703
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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