A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580912



Internal ID5582728
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639690
Supporting Variants
SamplesHG02882
Known GenesSLC43A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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