A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605128



Internal ID6992156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57093784..57096242hg38UCSC Ensembl
Innerchr5:57093797..57096229hg38UCSC Ensembl
Outerchr5:57093771..57096255hg38UCSC Ensembl
chr5:56389611..56392069hg19UCSC Ensembl
Innerchr5:56389624..56392056hg19UCSC Ensembl
Outerchr5:56389598..56392082hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382459
hg192459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11913483
SamplesHG02943
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605128
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