A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996120



Internal ID6732064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83519895..83519961hg38UCSC Ensembl
chr6:84229614..84229680hg19UCSC Ensembl
chr6:84286333..84286399hg18UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3578466
SamplesHuRef
Known GenesPRSS35
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996120
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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