A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978517



Internal ID12632002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104890432..105130432hg38UCSC Ensembl
Innerchr6:105338307..105578307hg19UCSC Ensembl
Innerchr6:105445000..105685000hg18UCSC Ensembl
Innerchr6:105445000..105685000hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38240001
hg19240001
hg18240001
hg17240001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978517
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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