A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15618054



Internal ID3920336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14193365..14205197hg38UCSC Ensembl
Innerchr17:14193365..14205197hg38UCSC Ensembl
Outerchr17:14192865..14205697hg38UCSC Ensembl
chr17:14096682..14108514hg19UCSC Ensembl
Innerchr17:14096682..14108514hg19UCSC Ensembl
Outerchr17:14096182..14109014hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3811833
hg1911833
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640019
Supporting Variants
SamplesHG03572
Known GenesCOX10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15618054
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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