A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48n82



Internal ID22782882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94802207..94806380hg38UCSC Ensembl
chr2:95467952..95472125hg19UCSC Ensembl
chr2:94831679..94835852hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg384174
hg194174
hg184174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv979230, nsv961611
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv48n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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