A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751781



Internal ID12638647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20554022..20802619hg38UCSC Ensembl
Innerchr19:20736828..20985425hg19UCSC Ensembl
Innerchr19:20528668..20777265hg18UCSC Ensembl
Innerchr19:20528668..20777265hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38248598
hg19248598
hg18248598
hg17248598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985843, essv6987280, essv6985841, essv6985842
SamplesSPC_65
Known GenesZNF626, ZNF737
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751781
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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