A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978518



Internal ID12632003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104890921..105130117hg38UCSC Ensembl
Innerchr6:105338796..105577992hg19UCSC Ensembl
Innerchr6:105445489..105684685hg18UCSC Ensembl
Innerchr6:105445489..105684685hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38239197
hg19239197
hg18239197
hg17239197
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)essv6978518
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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