A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590067



Internal ID6977395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24331910..24336619hg38UCSC Ensembl
Innerchr2:24331910..24336619hg38UCSC Ensembl
Outerchr2:24331410..24337119hg38UCSC Ensembl
chr2:24554779..24559488hg19UCSC Ensembl
Innerchr2:24554779..24559488hg19UCSC Ensembl
Outerchr2:24554279..24559988hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384710
hg194710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10432615
SamplesNA19309
Known GenesITSN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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