A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984240



Internal ID12631244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6896369..7085469hg38UCSC Ensembl
Innerchr19:6896380..7085480hg19UCSC Ensembl
Innerchr19:6847380..7036480hg18UCSC Ensembl
Innerchr19:6847380..7036480hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38189101
hg19189101
hg18189101
hg17189101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751807
Supporting Variants
SamplesBEC_817
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984240
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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