A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995819



Internal ID6731767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4714597..4714696hg38UCSC Ensembl
chr17:4617892..4617991hg19UCSC Ensembl
chr17:4564641..4564740hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576703
SamplesHuRef
Known GenesARRB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995819
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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