A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585371



Internal ID6625690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17541780..17543451hg38UCSC Ensembl
Innerchr1:17541809..17543422hg38UCSC Ensembl
Outerchr1:17541751..17543480hg38UCSC Ensembl
chr1:17868275..17869946hg19UCSC Ensembl
Innerchr1:17868304..17869917hg19UCSC Ensembl
Outerchr1:17868246..17869975hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381672
hg191672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9876183
SamplesNA18943
Known GenesARHGEF10L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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