A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15368004



Internal ID5369820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7612062..7615068hg38UCSC Ensembl
Innerchr16:7612112..7615018hg38UCSC Ensembl
Outerchr16:7611969..7615161hg38UCSC Ensembl
chr16:7662064..7665070hg19UCSC Ensembl
Innerchr16:7662114..7665020hg19UCSC Ensembl
Outerchr16:7661971..7665163hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383007
hg193007
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637804
Supporting Variants
SamplesNA18626
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15368004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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