A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11261126



Internal ID1719971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187319038..187321789hg38UCSC Ensembl
Innerchr3:187319051..187321777hg38UCSC Ensembl
Outerchr3:187319026..187321802hg38UCSC Ensembl
chr3:187036826..187039577hg19UCSC Ensembl
Innerchr3:187036839..187039565hg19UCSC Ensembl
Outerchr3:187036814..187039590hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg382752
hg192752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599010
Supporting Variants
SamplesHG01598
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11261126
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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