A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv713e214



Internal ID20122136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86173703..86286364hg38UCSC Ensembl
chr2:86400826..86513487hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38112662
hg19112662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591546, esv3591547
SamplesHG00246, HG00319, HG01479
Known GenesIMMT, MIR4779, MRPL35, REEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv713e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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