A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988531



Internal ID12626991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166984629..167199171hg38UCSC Ensembl
Innerchr1:166953866..167168408hg19UCSC Ensembl
Innerchr1:165220490..165435032hg18UCSC Ensembl
Innerchr1:163685524..163900066hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38214543
hg19214543
hg18214543
hg17214543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750815
Supporting Variants
SamplesBEC_437
Known GenesDUSP27, GPA33, MAEL
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988531
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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