A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10432615



Internal ID5883362
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590067
Supporting Variants
SamplesNA19309
Known GenesITSN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10432615
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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