A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161305



Internal ID7906019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6710054..6974427hg38UCSC Ensembl
Innerchr19:6710065..6974438hg19UCSC Ensembl
Innerchr19:6661065..6925438hg18UCSC Ensembl
Innerchr19:6661065..6925438hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38264374
hg19264374
hg18264374
hg17264374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422507
Supporting Variants
SamplesND03660
Known GenesC3, EMR1, EMR4P, GPR108, MIR6791, 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)essv5161305
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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