A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979734



Internal ID12633958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55038020..55108120hg38UCSC Ensembl
Innerchr19:55549388..55619488hg19UCSC Ensembl
Innerchr19:60241200..60311300hg18UCSC Ensembl
Innerchr19:60241200..60311300hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870101
hg1970101
hg1870101
hg1770101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34356
Supporting Variants
SamplesNA18620
Known GenesEPS8L1, GP6, PPP1R12C, RDH13
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979734
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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