A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751809



Internal ID12638675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6896369..7816144hg38UCSC Ensembl
Innerchr19:6896380..7881030hg19UCSC Ensembl
Innerchr19:6847380..7787030hg18UCSC Ensembl
Innerchr19:6847380..7787030hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38919776
hg19984651
hg18939651
hg17939651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987625, essv6984573, essv6987626, essv6984572, essv6984574, essv6984571
SamplesBEC_720
Known GenesARHGEF18, C19orf45, C19orf59, CAMSAP3, CD209, CLEC4G, CLEC4GP1, CLEC4M, EMR1, EMR4P, FCER2, FLJ25758, INSR, LOC100128573, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MCOLN1, MIR6792, PCP2, PET100, PEX11G, PNPLA6, RETN, STXBP2, TRAPPC5, XAB2, ZNF358, ZNF557
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)esv2751809
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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