A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981839



Internal ID12627328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20805376..21010843hg38UCSC Ensembl
Innerchr17:20708689..20914156hg19UCSC Ensembl
Innerchr17:20649281..20854748hg18UCSC Ensembl
Innerchr17:20649281..20854748hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38205468
hg19205468
hg18205468
hg17205468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751619
Supporting Variants
SamplesBEC_492
Known GenesCCDC144NL, LOC440416, USP22
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981839
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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