A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669886



Internal ID9935991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52995000..53004706hg38UCSC Ensembl
Outerchr3:52994629..53005076hg38UCSC Ensembl
Innerchr3:53029016..53038722hg19UCSC Ensembl
Outerchr3:53028645..53039092hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3810448
hg1910448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv862e199
Supporting Variantsessv6195578, essv6133784, essv6421314, essv5658411, essv6395895, essv6419306, essv6317617, essv6335579, essv6245348, essv5405943, essv5604960, essv6369077, essv5881131
SamplesNA19660, NA19719, NA19725, NA19789, NA19717, NA19750, NA19761, NA19682, NA19675, NA19685, NA19749, NA19679, NA19716
Known GenesSFMBT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669886
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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