A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4206n100



Internal ID22790293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241995670..242147293hg38UCSC Ensembl
chr2:242937821..243089444hg19UCSC Ensembl
chr2:242586494..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38151624
hg19151624
hg18151624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999324, nsv999031, nsv1005835, nsv1012429, nsv998060, nsv1008819, nsv1008118, nsv1004774, nsv1012744
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4206n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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