A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637803



Internal ID6677903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7590353..7591600hg38UCSC Ensembl
Innerchr16:7590381..7591572hg38UCSC Ensembl
Outerchr16:7590325..7591628hg38UCSC Ensembl
chr16:7640355..7641602hg19UCSC Ensembl
Innerchr16:7640383..7641574hg19UCSC Ensembl
Outerchr16:7640327..7641630hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15368003
SamplesHG03907
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637803
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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