A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637789



Internal ID6677890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7019517..7023185hg38UCSC Ensembl
Innerchr16:7019527..7023176hg38UCSC Ensembl
Outerchr16:7019508..7023195hg38UCSC Ensembl
chr16:7069518..7073186hg19UCSC Ensembl
Innerchr16:7069528..7073177hg19UCSC Ensembl
Outerchr16:7069509..7073196hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383669
hg193669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365831, essv15365830, essv15365832, essv15365833
SamplesNA19011, NA18593, NA18939, NA19091
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637789
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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