A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15737312



Internal ID5739128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74105938..74249469hg38UCSC Ensembl
chr17:72102077..72245608hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38143532
hg19143532
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641233
Supporting Variants
SamplesNA12348
Known GenesMGC16275, RPL38, TTYH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15737312
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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