A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv963e214



Internal ID20122386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186668458..186717451hg38UCSC Ensembl
chr3:186386247..186435240hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3848994
hg1948994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3598992, esv3598993
SamplesHG00100, HG01305, NA12813
Known GenesHRG, KNG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv963e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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