A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637804



Internal ID6677904
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15368004
SamplesNA18626
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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