A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985843



Internal ID12637440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20675995..20801710hg38UCSC Ensembl
Innerchr19:20858801..20984516hg19UCSC Ensembl
Innerchr19:20650641..20776356hg18UCSC Ensembl
Innerchr19:20650641..20776356hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38125716
hg19125716
hg18125716
hg17125716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751781
Supporting Variants
SamplesSPC_65
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985843
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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