A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597863



Internal ID6638130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135006384..135030512hg38UCSC Ensembl
chr3:134725226..134749354hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3824129
hg1924129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv939e214
Supporting Variantsessv11156440, essv11156439
SamplesNA18520, HG02737
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597863
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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