A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15658051



Internal ID5659867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31503171..31504270hg38UCSC Ensembl
Innerchr17:31503183..31504258hg38UCSC Ensembl
Outerchr17:31503159..31504282hg38UCSC Ensembl
chr17:29830189..29831288hg19UCSC Ensembl
Innerchr17:29830201..29831276hg19UCSC Ensembl
Outerchr17:29830177..29831300hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640365
Supporting Variants
SamplesHG02817
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15658051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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