A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11156440



Internal ID1158256
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597863
Supporting Variants
SamplesNA18520
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11156440
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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