A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988584



Internal ID12975550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195706672..195924478hg38UCSC Ensembl
Innerchr3:195433543..195651349hg19UCSC Ensembl
Innerchr3:196918723..197135746hg18UCSC Ensembl
Innerchr3:196922636..197139659hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38217807
hg19217807
hg18217024
hg17217024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751988
Supporting Variants
SamplesBEC_593
Known GenesMIR6829, MUC20, MUC4, TNK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988584
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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