A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588893



Internal ID6976309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220115316..220117959hg38UCSC Ensembl
Innerchr1:220115324..220117951hg38UCSC Ensembl
Outerchr1:220115308..220117967hg38UCSC Ensembl
chr1:220288658..220291301hg19UCSC Ensembl
Innerchr1:220288666..220291293hg19UCSC Ensembl
Outerchr1:220288650..220291309hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382644
hg192644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10298119, essv10298123, essv10298128, essv10298124, essv10298125, essv10298120, essv10298122, essv10298116, essv10298115, essv10298117, essv10298118, essv10298126, essv10298121, essv10298127
SamplesHG00334, HG01134, HG01628, HG00232, HG00253, HG00183, HG01345, HG00276, HG00126, HG01190, HG01678, HG01494, HG00698, NA07056
Known GenesIARS2, MIR215, RNU5F-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588893
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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