A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4144n100



Internal ID22790231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194043206..194125110hg38UCSC Ensembl
chr2:194907930..194989834hg19UCSC Ensembl
chr2:194616175..194698079hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3881905
hg1981905
hg1881905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013191, nsv1003673, nsv1003264, nsv1009749, nsv1006484, nsv1011677, nsv1001778, nsv1011474, nsv998865
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)dgv4144n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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