A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15745934



Internal ID5747750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77065524..77180984hg38UCSC Ensembl
chr17:75061606..75177066hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38115461
hg19115461
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641304
Supporting Variants
SamplesHG00662
Known GenesLINC00338, MIR6516, SCARNA16, SEC14L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15745934
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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