A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637785



Internal ID6677886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6994866..7006227hg38UCSC Ensembl
Innerchr16:6994913..7006181hg38UCSC Ensembl
Outerchr16:6994820..7006274hg38UCSC Ensembl
chr16:7044867..7056228hg19UCSC Ensembl
Innerchr16:7044914..7056182hg19UCSC Ensembl
Outerchr16:7044821..7056275hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811362
hg1911362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365814, essv15365813, essv15365815
SamplesNA18951, HG01589, HG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637785
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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