A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985542



Internal ID12973168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78624064..78750886hg38UCSC Ensembl
Innerchr18:76384064..76510886hg19UCSC Ensembl
Innerchr18:74485052..74611874hg18UCSC Ensembl
Innerchr18:74485052..74611874hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38126823
hg19126823
hg18126823
hg17126823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751780
Supporting Variants
SamplesBEC_385
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985542
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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