A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11085795



Internal ID1087611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100604090..100718495hg38UCSC Ensembl
chr3:100322934..100437339hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38114406
hg19114406
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597175
Supporting Variants
SamplesHG01603
Known GenesGPR128, TFG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11085795
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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