A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4172n100



Internal ID22790259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214640362..214693219hg38UCSC Ensembl
chr2:215505086..215557943hg19UCSC Ensembl
chr2:215213331..215266188hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3852858
hg1952858
hg1852858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997655, nsv1005814, nsv1008366, nsv1004840
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)dgv4172n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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