A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979964



Internal ID12981036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854483..196917640hg38UCSC Ensembl
Innerchr1:196823613..196886770hg19UCSC Ensembl
Innerchr1:195090236..195153393hg18UCSC Ensembl
Innerchr1:193555270..193618427hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863158
hg1963158
hg1863158
hg1763158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34855
Supporting Variants
SamplesNA18870
Known GenesCFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979964
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