A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4046n100



Internal ID20155662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110087613..110226092hg38UCSC Ensembl
chr2:110845190..110983669hg19UCSC Ensembl
chr2:110202479..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38138480
hg19138480
hg18138480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012459, nsv1014587, nsv1009377, nsv1003643
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4046n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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