A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988491



Internal ID7060438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4191634..4191959hg38UCSC Ensembl
chr17:4094929..4095254hg19UCSC Ensembl
chr17:4041678..4042003hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569137
SamplesHuRef
Known GenesANKFY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988491
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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