A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599277



Internal ID6986325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196227560..196295937hg38UCSC Ensembl
chr3:195954431..196022808hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3868378
hg1968378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11306772, essv11306773
SamplesHG03624, HG00276
Known GenesPCYT1A, SLC51A, TCTEX1D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599277
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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