A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11227294



Internal ID2427902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172318798..172320158hg38UCSC Ensembl
Innerchr3:172318805..172320151hg38UCSC Ensembl
Outerchr3:172318791..172320165hg38UCSC Ensembl
chr3:172036588..172037948hg19UCSC Ensembl
Innerchr3:172036595..172037941hg19UCSC Ensembl
Outerchr3:172036581..172037955hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598664
Supporting Variants
SamplesHG02143
Known GenesFNDC3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11227294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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