A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001216



Internal ID7066344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32282290..32282898hg38UCSC Ensembl
chr17:30609309..30609917hg19UCSC Ensembl
chr17:27633422..27634030hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574565
SamplesHuRef
Known GenesRHBDL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001216
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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