A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988642



Internal ID12628353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143877448..144072169hg38UCSC Ensembl
Innerchr4:144798601..144993322hg19UCSC Ensembl
Innerchr4:145018051..145212772hg18UCSC Ensembl
Innerchr4:145156206..145350927hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38194722
hg19194722
hg18194722
hg17194722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752028
Supporting Variants
SamplesBEC_558
Known GenesGYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988642
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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