A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161319



Internal ID7906033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6738830..6974427hg38UCSC Ensembl
Innerchr19:6738841..6974438hg19UCSC Ensembl
Innerchr19:6689841..6925438hg18UCSC Ensembl
Innerchr19:6689841..6925438hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38235598
hg19235598
hg18235598
hg17235598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422461
Supporting Variants
SamplesND01570
Known GenesEMR1, EMR4P, SH2D3A, TRIP10, VAV1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161319
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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