A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978039



Internal ID12631822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105000432..105130432hg38UCSC Ensembl
Innerchr6:105448307..105578307hg19UCSC Ensembl
Innerchr6:105555000..105685000hg18UCSC Ensembl
Innerchr6:105555000..105685000hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38130001
hg19130001
hg18130001
hg17130001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34842
Supporting Variants
SamplesNA10859
Known GenesBVES, LIN28B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978039
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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