A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597868



Internal ID6638135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135251854..135277865hg38UCSC Ensembl
chr3:134970696..134996707hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3826012
hg1926012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11156529, essv11156528
SamplesNA18520, HG01342
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597868
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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