A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4148n100



Internal ID22790235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194994481..195024992hg38UCSC Ensembl
chr2:195859205..195889716hg19UCSC Ensembl
chr2:195567450..195597961hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3830512
hg1930512
hg1830512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010085, nsv1007707, nsv1011306
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4148n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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