A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639690



Internal ID6679780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1594696..1595590hg38UCSC Ensembl
Innerchr17:1594746..1595540hg38UCSC Ensembl
Outerchr17:1594610..1595676hg38UCSC Ensembl
chr17:1497990..1498884hg19UCSC Ensembl
Innerchr17:1498040..1498834hg19UCSC Ensembl
Outerchr17:1497904..1498970hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15580916, essv15580914, essv15580915, essv15580913, essv15580917, essv15580912
SamplesHG02882, NA20351, HG04014, HG04214, HG03097, HG03073
Known GenesSLC43A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639690
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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