A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365833



Internal ID5367649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7019517..7023185hg38UCSC Ensembl
Innerchr16:7019527..7023176hg38UCSC Ensembl
Outerchr16:7019508..7023195hg38UCSC Ensembl
chr16:7069518..7073186hg19UCSC Ensembl
Innerchr16:7069528..7073177hg19UCSC Ensembl
Outerchr16:7069509..7073196hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383669
hg193669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637789
Supporting Variants
SamplesNA19091
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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