A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978516



Internal ID12632001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104885045..105135512hg38UCSC Ensembl
Innerchr6:105332920..105583387hg19UCSC Ensembl
Innerchr6:105439613..105690080hg18UCSC Ensembl
Innerchr6:105439613..105690080hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38250468
hg19250468
hg18250468
hg17250468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34996
Supporting Variants
SamplesNA11881
Known GenesBVES, LIN28B, LINC00577
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978516
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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