A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585580



Internal ID473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48027628..48028136hg38UCSC Ensembl
Outerchr18:48025919..48031491hg38UCSC Ensembl
Innerchr18:45553999..45554507hg19UCSC Ensembl
Outerchr18:45552290..45557862hg19UCSC Ensembl
Innerchr18:43807997..43808505hg18UCSC Ensembl
Outerchr18:43806288..43811860hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385573
hg195573
hg185573
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274948
Supporting Variants
Samples
Known GenesZBTB7C
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585580
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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