A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657561



Internal ID9923666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70361836..70384083hg38UCSC Ensembl
Outerchr4:70361679..70384236hg38UCSC Ensembl
Innerchr4:71227553..71249800hg19UCSC Ensembl
Outerchr4:71227396..71249953hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3822558
hg1922558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv955e199
Supporting Variantsessv5806761, essv6336853, essv6115734
SamplesHG00542, NA18565, NA18579
Known GenesSMR3A, SMR3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657561
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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