A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1022e214



Internal ID22756916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123037781..123082215hg38UCSC Ensembl
chr4:123958936..124003370hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3844435
hg1944435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3602040, esv3602039
SamplesHG01098, HG00740, HG01161
Known GenesSPATA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1022e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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