A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161481



Internal ID7906195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75200937..75804145hg38UCSC Ensembl
Innerchr3:75250088..75853296hg19UCSC Ensembl
Innerchr3:75332778..75935986hg18UCSC Ensembl
Innerchr3:75332778..75935986hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38603209
hg19603209
hg18603209
hg17603209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422315
Supporting Variants
SamplesND00723
Known GenesFAM86DP, FLJ20518, FRG2C, LINC00960, MIR1324, MIR4273, MIR4444-1, ZNF717
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161481
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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