A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987626



Internal ID12630518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6901231..6997362hg38UCSC Ensembl
Innerchr19:6901242..6997373hg19UCSC Ensembl
Innerchr19:6852242..6948373hg18UCSC Ensembl
Innerchr19:6852242..6948373hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3896132
hg1996132
hg1896132
hg1796132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751809
Supporting Variants
SamplesBEC_720
Known GenesEMR1, EMR4P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987626
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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