A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15584321



Internal ID6446260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2245661..2257355hg38UCSC Ensembl
Innerchr17:2245711..2257305hg38UCSC Ensembl
Outerchr17:2245591..2257425hg38UCSC Ensembl
chr17:2148955..2160649hg19UCSC Ensembl
Innerchr17:2149005..2160599hg19UCSC Ensembl
Outerchr17:2148885..2160719hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3811695
hg1911695
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639707
Supporting Variants
SamplesNA20511
Known GenesSMG6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15584321
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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