A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981991



Internal ID12627566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77171496..77646342hg38UCSC Ensembl
Innerchr18:74883452..75358298hg19UCSC Ensembl
Innerchr18:73012440..73487286hg18UCSC Ensembl
Innerchr18:73012440..73487286hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38474847
hg19474847
hg18474847
hg17474847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751779
Supporting Variants
SamplesBEC_510
Known GenesGALR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981991
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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