A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805608



Internal ID9862675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16088858..16089210hg38UCSC Ensembl
Outerchr7:16128483..16128835hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734048
Supporting Variants
SamplesSSM074
Known GenesISPD
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)essv6805608
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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