A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734807



Internal ID10318443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:90290162..90291004hg38UCSC Ensembl
Outerchr7:89919476..89920318hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771116, essv6687515, essv6763487
SamplesSSM008, SSM065, SSM035
Known GenesC7orf63
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)esv2734807
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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