A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986929



Internal ID12633978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55038018..55121025hg38UCSC Ensembl
Innerchr19:55549386..55632393hg19UCSC Ensembl
Innerchr19:60241198..60324205hg18UCSC Ensembl
Innerchr19:60241198..60324205hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3883008
hg1983008
hg1883008
hg1783008
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)essv6986929
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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