A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590238



Internal ID6630525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32068016..32070194hg38UCSC Ensembl
Innerchr2:32068016..32070194hg38UCSC Ensembl
Outerchr2:32067831..32070382hg38UCSC Ensembl
chr2:32293085..32295263hg19UCSC Ensembl
Innerchr2:32293085..32295263hg19UCSC Ensembl
Outerchr2:32292900..32295451hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382179
hg192179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447562, essv10447564, essv10447565, essv10447563
SamplesNA19700, HG02545, NA19984, NA19147
Known GenesSPAST
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590238
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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