A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15621597



Internal ID5680795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14369438..14385275hg38UCSC Ensembl
Innerchr17:14369438..14385275hg38UCSC Ensembl
Outerchr17:14368938..14385775hg38UCSC Ensembl
chr17:14272755..14288592hg19UCSC Ensembl
Innerchr17:14272755..14288592hg19UCSC Ensembl
Outerchr17:14272255..14289092hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3815838
hg1915838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640031
Supporting Variants
SamplesNA19081
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15621597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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