A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4138n100



Internal ID22790225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192501762..192574104hg38UCSC Ensembl
chr2:193366488..193438830hg19UCSC Ensembl
chr2:193074733..193147075hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3872343
hg1972343
hg1872343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007572, nsv1007820, nsv1002166, nsv998820
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)dgv4138n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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