A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17e196



Internal ID20123216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54575991..54733430hg38UCSC Ensembl
chr19:55087458..55244896hg19UCSC Ensembl
chr19:59779270..59936708hg18UCSC Ensembl
chr19:59779270..59936708hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38157440
hg19157439
hg18157439
hg17157439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422364, esv2422234, esv2422470
SamplesND01666, ND05165, ND03403
Known GenesKIR3DL3, LILRA1, LILRA2, LILRB1, LILRB4, LILRP2, MIR8061
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv17e196
Frequency
Sample Size181
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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