A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv690e214



Internal ID20122113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46441210..46519933hg38UCSC Ensembl
chr2:46668349..46747072hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3878724
hg1978724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590609, esv3590610
SamplesNA10847, HG02067
Known GenesATP6V1E2, LOC101805491, TMEM247
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv690e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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