A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639749



Internal ID6679839
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15588611, essv15588612
SamplesHG02820, HG02768
Known GenesCTNS, SHPK, TRPV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639749
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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