A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985500



Internal ID12626222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867242..144109242hg38UCSC Ensembl
Innerchr4:144788395..145030395hg19UCSC Ensembl
Innerchr4:145007845..145249845hg18UCSC Ensembl
Innerchr4:145146000..145388000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38242001
hg19242001
hg18242001
hg17242001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752029
Supporting Variants
SamplesBEC_360
Known GenesGYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985500
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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