A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585724



Internal ID347303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244823079..244823897hg38UCSC Ensembl
Outerchr1:244813549..244824923hg38UCSC Ensembl
Innerchr1:244986381..244987199hg19UCSC Ensembl
Outerchr1:244976851..244988225hg19UCSC Ensembl
Innerchr1:243053004..243053822hg18UCSC Ensembl
Outerchr1:243043474..243054848hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811375
hg1911375
hg1811375
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275279
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585724
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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