A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982008



Internal ID12627591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6384949..6407411hg38UCSC Ensembl
Innerchr17:6288269..6310731hg19UCSC Ensembl
Innerchr17:6228993..6251455hg18UCSC Ensembl
Innerchr17:6228993..6251455hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3822463
hg1922463
hg1822463
hg1722463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751768
Supporting Variants
SamplesBEC_512
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982008
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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