A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275417



Internal ID348323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131167519..131168748hg38UCSC Ensembl
Outerchr9:131166881..131170147hg38UCSC Ensembl
Innerchr9:134042906..134044135hg19UCSC Ensembl
Outerchr9:134042268..134045534hg19UCSC Ensembl
Innerchr9:133032727..133033956hg18UCSC Ensembl
Outerchr9:133032089..133035355hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg383267
hg193267
hg183267
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585225, essv2585640
Samples
Known GenesNUP214
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275417
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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