A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv929e214



Internal ID22756823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120917498..120922013hg38UCSC Ensembl
chr3:120636345..120640860hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg384516
hg194516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3597583, esv3597582
SamplesHG03123, HG02317, HG02947
Known GenesSTXBP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv929e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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