A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15702334



Internal ID5704150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54919823..54998005hg38UCSC Ensembl
chr17:52997184..53075366hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3878183
hg1978183
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640830
Supporting Variants
SamplesNA20903
Known GenesCOX11, STXBP4, TOM1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15702334
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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