A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6947n54



Internal ID18999123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:87815738..88850700hg38UCSC Ensembl
chr2:88115257..89150213hg19UCSC Ensembl
chr2:87896372..88931328hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381034963
hg191034957
hg181034957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582381, nsv582385
Samples
Known GenesANKRD36BP2, EIF2AK3, FABP1, FOXI3, KRCC1, MIR4436A, MIR4780, RGPD1, RGPD2, RPIA, SMYD1, TEX37, THNSL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6947n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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