A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985811



Internal ID12637383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49995131..50282129hg38UCSC Ensembl
Innerchr19:50498388..50785386hg19UCSC Ensembl
Innerchr19:55190200..55477198hg18UCSC Ensembl
Innerchr19:55190200..55477198hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38286999
hg19286999
hg18286999
hg17286999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751796
Supporting Variants
SamplesSPC_56
Known GenesFLJ26850, IZUMO2, MYH14, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, VRK3, ZNF473
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985811
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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