A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981993



Internal ID12627557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77207356..77550856hg38UCSC Ensembl
Innerchr18:74919312..75262812hg19UCSC Ensembl
Innerchr18:73048300..73391800hg18UCSC Ensembl
Innerchr18:73048300..73391800hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38343501
hg19343501
hg18343501
hg17343501
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)essv6981993
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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