A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365840



Internal ID5367656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7043180..7074670hg38UCSC Ensembl
Innerchr16:7043180..7074670hg38UCSC Ensembl
Outerchr16:7042680..7075170hg38UCSC Ensembl
chr16:7093181..7124671hg19UCSC Ensembl
Innerchr16:7093181..7124671hg19UCSC Ensembl
Outerchr16:7092681..7125171hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3831491
hg1931491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637792
Supporting Variants
SamplesHG00311
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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