A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv727e214



Internal ID20122150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110095276..110225397hg38UCSC Ensembl
chr2:110852853..110982974hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38130122
hg19130122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591950, esv3591953
SamplesHG01896, HG01075, HG00127, HG01944, HG00581, NA18627, NA20348, HG00732, HG00255, NA18558, HG01923, HG04162, HG00120, HG03388
Known GenesLINC00116, MALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv727e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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