A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571301



Internal ID6695997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7186252..7186376hg38UCSC Ensembl
chr16:7236253..7236377hg19UCSC Ensembl
chr16:7176254..7176378hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989383
Supporting Variants
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571301
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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