A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404233



Internal ID2602361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8893593..8895613hg38UCSC Ensembl
Innerchr2:8893608..8895599hg38UCSC Ensembl
Outerchr2:8893579..8895628hg38UCSC Ensembl
chr2:9033723..9035743hg19UCSC Ensembl
Innerchr2:9033738..9035729hg19UCSC Ensembl
Outerchr2:9033709..9035758hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382021
hg192021
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589761
Supporting Variants
SamplesHG02307
Known GenesMBOAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404233
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