A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597583



Internal ID6984722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120918142..120921976hg38UCSC Ensembl
chr3:120636989..120640823hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383835
hg193835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv929e214
Supporting Variantsessv11122210, essv11122208, essv11122209
SamplesHG03123, HG02317, HG02947
Known GenesSTXBP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597583
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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