A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677914



Internal ID9944019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62650389..62652115hg38UCSC Ensembl
Outerchr4:62650352..62652165hg38UCSC Ensembl
Innerchr4:63516107..63517833hg19UCSC Ensembl
Outerchr4:63516070..63517883hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv947e199
Supporting Variantsessv6546569
SamplesNA19247
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677914
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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