A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594058



Internal ID6981379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205935021..205935850hg38UCSC Ensembl
Innerchr2:205935075..205935796hg38UCSC Ensembl
Outerchr2:205934967..205935904hg38UCSC Ensembl
chr2:206799745..206800574hg19UCSC Ensembl
Innerchr2:206799799..206800520hg19UCSC Ensembl
Outerchr2:206799691..206800628hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828679
SamplesHG02389
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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