A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10551299



Internal ID6099724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:77569907..77602549hg38UCSC Ensembl
Innerchr2:77569911..77602545hg38UCSC Ensembl
Outerchr2:77569903..77602553hg38UCSC Ensembl
chr2:77797033..77829675hg19UCSC Ensembl
Innerchr2:77797037..77829671hg19UCSC Ensembl
Outerchr2:77797029..77829679hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3832643
hg1932643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591356
Supporting Variants
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10551299
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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