A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597486



Internal ID6637756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116156345..116339884hg38UCSC Ensembl
Innerchr3:116156345..116339884hg38UCSC Ensembl
Outerchr3:116155845..116340384hg38UCSC Ensembl
chr3:115875192..116058731hg19UCSC Ensembl
Innerchr3:115875192..116058731hg19UCSC Ensembl
Outerchr3:115874692..116059231hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38183540
hg19183540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv922e214
Supporting Variantsessv11111208, essv11111209
SamplesHG01953, HG03088
Known GenesLSAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597486
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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