A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15599949



Internal ID3959686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5304739..5306294hg38UCSC Ensembl
Innerchr17:5304748..5306286hg38UCSC Ensembl
Outerchr17:5304731..5306303hg38UCSC Ensembl
chr17:5208034..5209589hg19UCSC Ensembl
Innerchr17:5208043..5209581hg19UCSC Ensembl
Outerchr17:5208026..5209598hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381556
hg191556
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639813
Supporting Variants
SamplesHG03611
Known GenesRABEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15599949
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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