A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679078



Internal ID2000705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42549950..42556643hg38UCSC Ensembl
chr17:40701968..40708661hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386694
hg196694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640608
Supporting Variants
SamplesHG01851
Known GenesHSD17B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679078
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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