A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987539



Internal ID12631241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6820940..7103531hg38UCSC Ensembl
Innerchr19:6820951..7103542hg19UCSC Ensembl
Innerchr19:6771951..7054542hg18UCSC Ensembl
Innerchr19:6771951..7054542hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38282592
hg19282592
hg18282592
hg17282592
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, VAV1, ZNF557
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987539
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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