A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15695054



Internal ID4197586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50318915..50323762hg38UCSC Ensembl
Innerchr17:50318948..50323730hg38UCSC Ensembl
Outerchr17:50318883..50323795hg38UCSC Ensembl
chr17:48396276..48401123hg19UCSC Ensembl
Innerchr17:48396309..48401091hg19UCSC Ensembl
Outerchr17:48396244..48401156hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384848
hg194848
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640750
Supporting Variants
SamplesHG03784
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15695054
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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