A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997618



Internal ID7081363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:914148..914282hg38UCSC Ensembl
chr17:817388..817522hg19UCSC Ensembl
chr17:764138..764272hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3582796
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997618
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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