A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680589



Internal ID5682405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43862438..43888388hg38UCSC Ensembl
Innerchr17:43862588..43888238hg38UCSC Ensembl
Outerchr17:43862288..43888538hg38UCSC Ensembl
chr17:41939806..41965756hg19UCSC Ensembl
Innerchr17:41939956..41965606hg19UCSC Ensembl
Outerchr17:41939656..41965906hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3825951
hg1925951
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640639
Supporting Variants
SamplesHG04198
Known GenesCD300LG, MPP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680589
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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