A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv705e214



Internal ID20122128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64115004..64296411hg38UCSC Ensembl
chr2:64342138..64523545hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38181408
hg19181408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591072, esv3591074
SamplesHG00266, HG03451, NA19917, HG00610, HG03391, NA18498, NA18502, HG03168, HG03123
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv705e214
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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