A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733879



Internal ID9968204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3708431..3708523hg38UCSC Ensembl
Outerchr7:3748063..3748155hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861084
SamplesSSM088
Known GenesSDK1
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)esv2733879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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