A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981992



Internal ID12627556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77202699..77621294hg38UCSC Ensembl
Innerchr18:74914655..75333250hg19UCSC Ensembl
Innerchr18:73043643..73462238hg18UCSC Ensembl
Innerchr18:73043643..73462238hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38418596
hg19418596
hg18418596
hg17418596
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981992
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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