A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3798n100



Internal ID20155414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44279994..44404126hg38UCSC Ensembl
chr2:44507133..44631265hg19UCSC Ensembl
chr2:44360637..44484769hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38124133
hg19124133
hg18124133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004857, nsv1011117
Samples
Known GenesCAMKMT, PREPL, SLC3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3798n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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