A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983217



Internal ID12975005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82618567..82681737hg38UCSC Ensembl
Innerchr1:83084250..83147420hg19UCSC Ensembl
Innerchr1:82856838..82920008hg18UCSC Ensembl
Innerchr1:82796271..82859441hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3863171
hg1963171
hg1863171
hg1763171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750841
Supporting Variants
SamplesBEC_557
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983217
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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