A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679082



Internal ID1161413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42549950..42556643hg38UCSC Ensembl
chr17:40701968..40708661hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386694
hg196694
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640609
Supporting Variants
SamplesHG01047
Known GenesHSD17B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679082
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer