A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984133



Internal ID12631047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143824849..144202456hg38UCSC Ensembl
Innerchr4:144746002..145123609hg19UCSC Ensembl
Innerchr4:144965452..145343059hg18UCSC Ensembl
Innerchr4:145103607..145481214hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38377608
hg19377608
hg18377608
hg17377608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752026
Supporting Variants
SamplesBEC_783
Known GenesGYPA, GYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984133
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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