A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585672



Internal ID347251
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275261
Supporting Variants
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)essv2585672
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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