A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15650639



Internal ID5652455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20919982..20922460hg38UCSC Ensembl
Innerchr17:20919986..20922457hg38UCSC Ensembl
Outerchr17:20919979..20922464hg38UCSC Ensembl
chr17:20823295..20825773hg19UCSC Ensembl
Innerchr17:20823299..20825770hg19UCSC Ensembl
Outerchr17:20823292..20825777hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640223
Supporting Variants
SamplesNA19451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15650639
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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