A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585373



Internal ID6625692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17671180..17677389hg38UCSC Ensembl
Innerchr1:17671180..17677389hg38UCSC Ensembl
Outerchr1:17670978..17677573hg38UCSC Ensembl
chr1:17997675..18003884hg19UCSC Ensembl
Innerchr1:17997675..18003884hg19UCSC Ensembl
Outerchr1:17997473..18004068hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386210
hg196210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9876210, essv9876209, essv9876207, essv9876208, essv9876206
SamplesHG01055, HG03265, NA20321, NA19017, NA19355
Known GenesARHGEF10L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585373
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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