A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536659



Internal ID1720875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69904983..69908734hg38UCSC Ensembl
Innerchr2:69904996..69908722hg38UCSC Ensembl
Outerchr2:69904971..69908747hg38UCSC Ensembl
chr2:70132115..70135866hg19UCSC Ensembl
Innerchr2:70132128..70135854hg19UCSC Ensembl
Outerchr2:70132103..70135879hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383752
hg193752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591195
Supporting Variants
SamplesHG01598
Known GenesSNRNP27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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