A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988315



Internal ID12971977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867490..143981289hg38UCSC Ensembl
Innerchr4:144788643..144902442hg19UCSC Ensembl
Innerchr4:145008093..145121892hg18UCSC Ensembl
Innerchr4:145146248..145260047hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38113800
hg19113800
hg18113800
hg17113800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752030
Supporting Variants
SamplesBEC_149
Known GenesGYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988315
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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