A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15354952



Internal ID5356768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:173679..177491hg38UCSC Ensembl
Innerchr16:173829..177341hg38UCSC Ensembl
Outerchr16:173529..177641hg38UCSC Ensembl
chr16:223678..227490hg19UCSC Ensembl
Innerchr16:223828..227340hg19UCSC Ensembl
Outerchr16:223528..227640hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383813
hg193813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637548
Supporting Variants
SamplesHG03270
Known GenesHBA1, HBA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15354952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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