A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985812



Internal ID12637384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50172738..50269877hg38UCSC Ensembl
Innerchr19:50675995..50773134hg19UCSC Ensembl
Innerchr19:55367807..55464946hg18UCSC Ensembl
Innerchr19:55367807..55464946hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3897140
hg1997140
hg1897140
hg1797140
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985812
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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