A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275031



Internal ID1251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236765289..236765371hg38UCSC Ensembl
Outerchr1:236761592..236765825hg38UCSC Ensembl
Innerchr1:236928589..236928671hg19UCSC Ensembl
Outerchr1:236924892..236929125hg19UCSC Ensembl
Innerchr1:234995212..234995294hg18UCSC Ensembl
Outerchr1:234991515..234995748hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384234
hg194234
hg184234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585820
Samples
Known GenesACTN2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275031
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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