A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985253



Internal ID12636337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197748569..198106887hg38UCSC Ensembl
Innerchr3:197475440..197833758hg19UCSC Ensembl
Innerchr3:198959837..199318155hg18UCSC Ensembl
Innerchr3:198963750..199322068hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38358319
hg19358319
hg18358319
hg17358319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751989
Supporting Variants
SamplesSPC_13
Known GenesANKRD18DP, FYTTD1, IQCG, KIAA0226, LMLN, LRCH3, RPL35A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985253
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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