A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6027488



Internal ID9004891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31332573..31332923hg38UCSC Ensembl
chr17:29659591..29659941hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665363
Supporting Variants
SamplesHG01102
Known GenesNF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6027488
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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