A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275261



Internal ID348167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71578195..71578224hg38UCSC Ensembl
Outerchr1:71574671..71579297hg38UCSC Ensembl
Innerchr1:72043878..72043907hg19UCSC Ensembl
Outerchr1:72040354..72044980hg19UCSC Ensembl
Innerchr1:71816466..71816495hg18UCSC Ensembl
Outerchr1:71812942..71817568hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384627
hg194627
hg184627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585672
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275261
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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