A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637756



Internal ID6677857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6645963..6647821hg38UCSC Ensembl
Innerchr16:6645963..6647821hg38UCSC Ensembl
Outerchr16:6645660..6648118hg38UCSC Ensembl
chr16:6695964..6697822hg19UCSC Ensembl
Innerchr16:6695964..6697822hg19UCSC Ensembl
Outerchr16:6695661..6698119hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381859
hg191859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364815, essv15364816, essv15364814
SamplesNA20522, HG02379, NA19002
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637756
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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