A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15655837



Internal ID4859068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28250904..28263402hg38UCSC Ensembl
Innerchr17:28250910..28263396hg38UCSC Ensembl
Outerchr17:28250898..28263408hg38UCSC Ensembl
chr17:26577930..26590428hg19UCSC Ensembl
Innerchr17:26577936..26590422hg19UCSC Ensembl
Outerchr17:26577924..26590434hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812499
hg1912499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640306
Supporting Variants
SamplesNA12282
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15655837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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