A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734176



Internal ID9968503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:28557018..28557245hg38UCSC Ensembl
Outerchr7:28596636..28596863hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833993
SamplesSSM082
Known GenesCREB5
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)esv2734176
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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