A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7215433



Internal ID10493715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:864137..864137hg38UCSC Ensembl
chr17:767377..767377hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2945866
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7215433
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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