A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15727412



Internal ID4172527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67317696..67325499hg38UCSC Ensembl
Innerchr17:67317746..67325449hg38UCSC Ensembl
Outerchr17:67317646..67325549hg38UCSC Ensembl
chr17:65313812..65321615hg19UCSC Ensembl
Innerchr17:65313862..65321565hg19UCSC Ensembl
Outerchr17:65313762..65321665hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg387804
hg197804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641086
Supporting Variants
SamplesHG03772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15727412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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