A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979485



Internal ID12980264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832213..196913213hg38UCSC Ensembl
Innerchr1:196801343..196882343hg19UCSC Ensembl
Innerchr1:195067966..195148966hg18UCSC Ensembl
Innerchr1:193533000..193614000hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3881001
hg1981001
hg1881001
hg1781001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35037
Supporting Variants
SamplesNA18563
Known GenesCFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979485
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer