A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15618004



Internal ID5619820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14037121..14081238hg38UCSC Ensembl
chr17:13940438..13984555hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3844118
hg1944118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640012
Supporting Variants
SamplesHG01058
Known GenesCOX10, COX10-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15618004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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