A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4030n100



Internal ID22790117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99223668..99311860hg38UCSC Ensembl
chr2:99840131..99928323hg19UCSC Ensembl
chr2:99206563..99294755hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3888193
hg1988193
hg1888193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005118, nsv1002169, nsv999059, nsv997436, nsv1001235, nsv1009459, nsv1009872, nsv1007566, nsv1001194, nsv1001736
Samples
Known GenesLYG1, LYG2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4030n100
Frequency
Sample Size11257
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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