A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv44n82



Internal ID22782878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68526082..68531291hg38UCSC Ensembl
chr2:68753214..68758423hg19UCSC Ensembl
chr2:68606718..68611927hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385210
hg195210
hg185210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv979014, nsv961412
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAPLF
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv44n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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