A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11161169



Internal ID6361236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139990523..140004400hg38UCSC Ensembl
chr3:139709365..139723242hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3813878
hg1913878
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597946
Supporting Variants
SamplesNA20291
Known GenesCLSTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11161169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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