A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984573



Internal ID12630539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6901229..7816144hg38UCSC Ensembl
Innerchr19:6901240..7881030hg19UCSC Ensembl
Innerchr19:6852240..7787030hg18UCSC Ensembl
Innerchr19:6852240..7787030hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38914916
hg19979791
hg18934791
hg17934791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751809
Supporting Variants
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984573
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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