A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988491



Internal ID12627747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77834867..78054167hg38UCSC Ensembl
Innerchr4:78756021..78975321hg19UCSC Ensembl
Innerchr4:78975045..79194345hg18UCSC Ensembl
Innerchr4:79113200..79332500hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38219301
hg19219301
hg18219301
hg17219301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752050
Supporting Variants
SamplesBEC_519
Known GenesMRPL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988491
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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