A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980447



Internal ID12982452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152710232..152784330hg38UCSC Ensembl
Innerchr1:152682708..152756806hg19UCSC Ensembl
Innerchr1:150949332..151023430hg18UCSC Ensembl
Innerchr1:149495781..149569879hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3874099
hg1974099
hg1874099
hg1774099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34854
Supporting Variants
SamplesNA19193
Known GenesC1orf68, KPRP, LCE1F
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980447
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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