A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593314



Internal ID6980638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168606946..168607674hg38UCSC Ensembl
Innerchr2:168606980..168607640hg38UCSC Ensembl
Outerchr2:168606912..168607708hg38UCSC Ensembl
chr2:169463456..169464184hg19UCSC Ensembl
Innerchr2:169463490..169464150hg19UCSC Ensembl
Outerchr2:169463422..169464218hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10753759, essv10753758
SamplesHG03225, HG01914
Known GenesCERS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593314
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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