A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676109



Internal ID9942214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119631061..119635967hg38UCSC Ensembl
Outerchr4:119630690..119636337hg38UCSC Ensembl
Innerchr4:120552216..120557122hg19UCSC Ensembl
Outerchr4:120551845..120557492hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5732575, essv5858004, essv6527152, essv5553683, essv5857997, essv5716813, essv6317712, essv5755393
SamplesNA19443, NA19445, NA19451, NA19449, NA19453, NA19469, NA19470, NA19472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676109
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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