A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15739025



Internal ID5740841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74527395..74686883hg38UCSC Ensembl
chr17:72523534..72683022hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38159489
hg19159489
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641244
Supporting Variants
SamplesNA12348
Known GenesC17orf77, CD300C, CD300E, CD300LB, CD300LD, RAB37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15739025
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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