A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441845



Internal ID5443661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31404264..31407669hg38UCSC Ensembl
Innerchr16:31404264..31407669hg38UCSC Ensembl
Outerchr16:31404150..31407790hg38UCSC Ensembl
chr16:31415585..31418990hg19UCSC Ensembl
Innerchr16:31415585..31418990hg19UCSC Ensembl
Outerchr16:31415471..31419111hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383406
hg193406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638400
Supporting Variants
SamplesNA19917
Known GenesITGAD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441845
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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