A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594111



Internal ID6981431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208225353..208232720hg38UCSC Ensembl
Innerchr2:208225353..208232720hg38UCSC Ensembl
Outerchr2:208225292..208232754hg38UCSC Ensembl
chr2:209090077..209097444hg19UCSC Ensembl
Innerchr2:209090077..209097444hg19UCSC Ensembl
Outerchr2:209090016..209097478hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387368
hg197368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832991, essv10832989, essv10832988, essv10832990
SamplesHG01281, HG01384, HG01889, HG00308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594111
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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