A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590702



Internal ID6978031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49638401..49691228hg38UCSC Ensembl
Innerchr2:49638401..49691228hg38UCSC Ensembl
Outerchr2:49637901..49691728hg38UCSC Ensembl
chr2:49865539..49918366hg19UCSC Ensembl
Innerchr2:49865539..49918366hg19UCSC Ensembl
Outerchr2:49865039..49918866hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3852828
hg1952828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10498697, essv10498698, essv10498696, essv10498694, essv10498695
SamplesHG03015, HG03902, HG02728, HG03940, HG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590702
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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