A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586140



Internal ID347719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217316782..217317554hg38UCSC Ensembl
Outerchr1:217316418..217319768hg38UCSC Ensembl
Innerchr1:217490124..217490896hg19UCSC Ensembl
Outerchr1:217489760..217493110hg19UCSC Ensembl
Innerchr1:215556747..215557519hg18UCSC Ensembl
Outerchr1:215556383..215559733hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383351
hg193351
hg183351
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275295
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)essv2586140
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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