A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751779



Internal ID12638645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77171456..77646342hg38UCSC Ensembl
Innerchr18:74883412..75358298hg19UCSC Ensembl
Innerchr18:73012400..73487286hg18UCSC Ensembl
Innerchr18:73012400..73487286hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38474887
hg19474887
hg18474887
hg17474887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981993, essv6981991, essv6981990, essv6981992, essv6981989
SamplesBEC_510
Known GenesGALR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751779
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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