A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15614709



Internal ID4123944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13505189..13518965hg38UCSC Ensembl
Innerchr17:13505189..13518965hg38UCSC Ensembl
Outerchr17:13505025..13519125hg38UCSC Ensembl
chr17:13408506..13422282hg19UCSC Ensembl
Innerchr17:13408506..13422282hg19UCSC Ensembl
Outerchr17:13408342..13422442hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3813777
hg1913777
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639991
Supporting Variants
SamplesHG03741
Known GenesHS3ST3A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15614709
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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