A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640935



Internal ID6681020
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716228, essv15716227
SamplesNA20770, NA12273
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640935
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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