A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5730792



Internal ID8708195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60502355..60504111hg38UCSC Ensembl
Outerchr17:60501984..60504481hg38UCSC Ensembl
Innerchr17:58579716..58581472hg19UCSC Ensembl
Outerchr17:58579345..58581842hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671823
Supporting Variants
SamplesNA19257
Known GenesAPPBP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5730792
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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