A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985677



Internal ID12627319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20946456..21007111hg38UCSC Ensembl
Innerchr17:20849769..20910424hg19UCSC Ensembl
Innerchr17:20790361..20851016hg18UCSC Ensembl
Innerchr17:20790361..20851016hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3860656
hg1960656
hg1860656
hg1760656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751619
Supporting Variants
SamplesBEC_492
Known GenesUSP22
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985677
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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