A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4200n100



Internal ID19014568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241786337..242092523hg38UCSC Ensembl
chr2:242725752..243034674hg19UCSC Ensembl
chr2:242374425..242683347hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38306187
hg19308923
hg18308923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014246, nsv1005595, nsv1000943, nsv1011971, nsv1012673, nsv1003713, nsv1005949, nsv1014421, nsv997249, nsv1010656, nsv1000193
Samples
Known GenesCXXC11, GAL3ST2, LOC728323, NEU4, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4200n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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