A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15744095



Internal ID4353393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76553052..76573475hg38UCSC Ensembl
chr17:74549134..74569557hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3820424
hg1920424
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641291
Supporting Variants
SamplesHG03888
Known GenesSNHG16, SNORD1A, SNORD1B, SNORD1C, ST6GALNAC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15744095
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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