A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11164371



Internal ID1166187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142099805..142311818hg38UCSC Ensembl
chr3:141818647..142030660hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38212014
hg19212014
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597996
Supporting Variants
SamplesNA20542
Known GenesGK5, TFDP2, XRN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11164371
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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