A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10407024



Internal ID5925882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11106221..11107309hg38UCSC Ensembl
Innerchr2:11106221..11107309hg38UCSC Ensembl
Outerchr2:11106018..11107410hg38UCSC Ensembl
chr2:11246347..11247435hg19UCSC Ensembl
Innerchr2:11246347..11247435hg19UCSC Ensembl
Outerchr2:11246144..11247536hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589812
Supporting Variants
SamplesNA19334
Known GenesFLJ33534
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10407024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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