A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15355188



Internal ID5357004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:246387..250231hg38UCSC Ensembl
Innerchr16:246887..249731hg38UCSC Ensembl
Outerchr16:245387..251231hg38UCSC Ensembl
chr16:296386..300230hg19UCSC Ensembl
Innerchr16:296886..299730hg19UCSC Ensembl
Outerchr16:295386..301230hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383845
hg193845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637560
Supporting Variants
SamplesNA19394
Known GenesITFG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15355188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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