A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11164629



Internal ID1166445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142177134..142371204hg38UCSC Ensembl
chr3:141895976..142090046hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38194071
hg19194071
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598001
Supporting Variants
SamplesNA12144
Known GenesGK5, XRN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11164629
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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