A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10719989



Internal ID4791052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154843333..154848348hg38UCSC Ensembl
Innerchr2:154843386..154848296hg38UCSC Ensembl
Outerchr2:154843281..154848401hg38UCSC Ensembl
chr2:155699845..155704860hg19UCSC Ensembl
Innerchr2:155699898..155704808hg19UCSC Ensembl
Outerchr2:155699793..155704913hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg385016
hg195016
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592998
Supporting Variants
SamplesNA11920
Known GenesKCNJ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10719989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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