A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593173



Internal ID6633453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161838199..161904728hg38UCSC Ensembl
Innerchr2:161838199..161904728hg38UCSC Ensembl
Outerchr2:161837699..161905228hg38UCSC Ensembl
chr2:162694709..162761238hg19UCSC Ensembl
Innerchr2:162694709..162761238hg19UCSC Ensembl
Outerchr2:162694209..162761738hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3866530
hg1966530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10740690, essv10740691
SamplesNA19355, HG03455
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593173
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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