A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6080954



Internal ID9583434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77487590..77487834hg38UCSC Ensembl
Outerchr17:77487463..77487960hg38UCSC Ensembl
Innerchr17:75483916..75483672hg19UCSC Ensembl
Outerchr17:75483545..75484042hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38n/a
hg19n/a
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672897
Supporting Variants
SamplesNA19172
Known GenesSEPT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6080954
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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