A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982955



Internal ID12627896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36121701..36150005hg38UCSC Ensembl
Innerchr17:34449087..34477387hg19UCSC Ensembl
Innerchr17:31473200..31501500hg18UCSC Ensembl
Innerchr17:31473200..31501500hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3828305
hg1928301
hg1828301
hg1728301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751625
Supporting Variants
SamplesBEC_529
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982955
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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