A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15605446



Internal ID4829531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8305942..8356829hg38UCSC Ensembl
Innerchr17:8306092..8356679hg38UCSC Ensembl
Outerchr17:8305792..8356979hg38UCSC Ensembl
chr17:8209260..8260147hg19UCSC Ensembl
Innerchr17:8209410..8259997hg19UCSC Ensembl
Outerchr17:8209110..8260297hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3850888
hg1950888
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639881
Supporting Variants
SamplesNA12046
Known GenesARHGEF15, ODF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15605446
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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