A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985813



Internal ID12637385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50196231..50239031hg38UCSC Ensembl
Innerchr19:50699488..50742288hg19UCSC Ensembl
Innerchr19:55391300..55434100hg18UCSC Ensembl
Innerchr19:55391300..55434100hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3842801
hg1942801
hg1842801
hg1742801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751796
Supporting Variants
SamplesSPC_56
Known GenesMYH14
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985813
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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