A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1052e214



Internal ID22756946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186072002..186212619hg38UCSC Ensembl
chr4:186993156..187133773hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38140618
hg19140618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3603518, esv3603519
SamplesHG03731, HG02727, HG04156, HG00736, HG04183, HG03771, HG04180, HG03781, HG03951, NA20847, HG03864
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1052e214
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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