A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569137



Internal ID7040519
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988491
Supporting Variants
SamplesHuRef
Known GenesANKFY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569137
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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