A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10751414



Internal ID5488840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167996164..167997777hg38UCSC Ensembl
Innerchr2:167996171..167997771hg38UCSC Ensembl
Outerchr2:167996158..167997784hg38UCSC Ensembl
chr2:168852674..168854287hg19UCSC Ensembl
Innerchr2:168852681..168854281hg19UCSC Ensembl
Outerchr2:168852668..168854294hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381614
hg191614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593303
Supporting Variants
SamplesNA18980
Known GenesSTK39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10751414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer