A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15588611



Internal ID5590427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3570544..3639124hg38UCSC Ensembl
chr17:3473838..3542418hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3868581
hg1968581
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639749
Supporting Variants
SamplesHG02768
Known GenesCTNS, SHPK, TRPV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15588611
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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