A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986260



Internal ID12975547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195707036..195855819hg38UCSC Ensembl
Innerchr3:195433907..195582690hg19UCSC Ensembl
Innerchr3:196919087..197067087hg18UCSC Ensembl
Innerchr3:196923000..197071000hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38148784
hg19148784
hg18148001
hg17148001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751988
Supporting Variants
SamplesBEC_593
Known GenesMUC20, MUC4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986260
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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