A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11476741



Internal ID1478557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67925571..68142494hg38UCSC Ensembl
chr4:68791289..69008212hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38216924
hg19216924
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600857
Supporting Variants
SamplesNA18517
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11476741
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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