A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15602860



Internal ID5015050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6968231..6973869hg38UCSC Ensembl
Innerchr17:6968235..6973865hg38UCSC Ensembl
Outerchr17:6968227..6973873hg38UCSC Ensembl
chr17:6871550..6877188hg19UCSC Ensembl
Innerchr17:6871554..6877184hg19UCSC Ensembl
Outerchr17:6871546..6877192hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385639
hg195639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639853
Supporting Variants
SamplesNA18510
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15602860
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