A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4069n100



Internal ID22790156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127537744..127722066hg38UCSC Ensembl
chr2:128295320..128479640hg19UCSC Ensembl
chr2:128011790..128196110hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38184323
hg19184321
hg18184321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006421, nsv1003004, nsv1004877
Samples
Known GenesGPR17, LIMS2, MYO7B, SFT2D3, WDR33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4069n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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