A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983218



Internal ID12975025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82631296..82711896hg38UCSC Ensembl
Innerchr1:83096979..83177579hg19UCSC Ensembl
Innerchr1:82869567..82950167hg18UCSC Ensembl
Innerchr1:82809000..82889600hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3880601
hg1980601
hg1880601
hg1780601
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)essv6983218
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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