A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11143n54



Internal ID22779038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1999959..2075768hg38UCSC Ensembl
chr7:2039594..2115403hg19UCSC Ensembl
chr7:2006120..2081929hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3875810
hg1975810
hg1875810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605856, nsv605857
SamplesHGDP00433, HGDP00787
Known GenesMAD1L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11143n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer