A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985842



Internal ID12637435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20675954..20801754hg38UCSC Ensembl
Innerchr19:20858760..20984560hg19UCSC Ensembl
Innerchr19:20650600..20776400hg18UCSC Ensembl
Innerchr19:20650600..20776400hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38125801
hg19125801
hg18125801
hg17125801
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)essv6985842
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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