A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274974



Internal ID1194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155673157..155674232hg38UCSC Ensembl
Outerchr7:155671323..155676942hg38UCSC Ensembl
Innerchr7:155465851..155466926hg19UCSC Ensembl
Outerchr7:155464017..155469636hg19UCSC Ensembl
Innerchr7:155158612..155159687hg18UCSC Ensembl
Outerchr7:155156778..155162397hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385620
hg195620
hg185620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585784
Samples
Known GenesRBM33
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274974
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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