A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11644n54



Internal ID20145068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142314978..142796623hg38UCSC Ensembl
chr7:141661297..142204435hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38481646
hg18543139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608592, nsv608608
SamplesHGDP00703, HGDP01205
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11644n54
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