A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984572



Internal ID12630509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6896369..7112254hg38UCSC Ensembl
Innerchr19:6896380..7112265hg19UCSC Ensembl
Innerchr19:6847380..7063265hg18UCSC Ensembl
Innerchr19:6847380..7063265hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38215886
hg19215886
hg18215886
hg17215886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751809
Supporting Variants
SamplesBEC_720
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984572
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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