A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716228



Internal ID5718044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60780512..60790989hg38UCSC Ensembl
Innerchr17:60780562..60790939hg38UCSC Ensembl
Outerchr17:60780406..60791095hg38UCSC Ensembl
chr17:58857873..58868350hg19UCSC Ensembl
Innerchr17:58857923..58868300hg19UCSC Ensembl
Outerchr17:58857767..58868456hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810478
hg1910478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640935
Supporting Variants
SamplesNA20770
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716228
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