A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978519



Internal ID12632004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105064432..105135432hg38UCSC Ensembl
Innerchr6:105512307..105583307hg19UCSC Ensembl
Innerchr6:105619000..105690000hg18UCSC Ensembl
Innerchr6:105619000..105690000hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3871001
hg1971001
hg1871001
hg1771001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34996
Supporting Variants
SamplesNA11881
Known GenesBVES, LIN28B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978519
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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