A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3865n100



Internal ID22789952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71545591..71612684hg38UCSC Ensembl
chr2:71772721..71839814hg19UCSC Ensembl
chr2:71626229..71693322hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3867094
hg1967094
hg1867094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005888, nsv1004289, nsv1009240, nsv999396, nsv1002171
Samples
Known GenesDYSF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3865n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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