A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673403



Internal ID9592822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133415222..133415696hg38UCSC Ensembl
chr3:133134066..133134540hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6168213, essv6398957, essv5554574, essv5630320, essv6046595, essv5691745, essv5681652, essv5487781, essv6443054, essv5808956, essv5877513, essv6136391, essv6171400, essv6172321, essv6288093, essv6023868, essv6542646, essv5760698, essv6472758, essv6577949, essv6417175, essv6086289, essv6513292
SamplesNA12154, NA19436, NA19321, NA18523, NA19437, NA19114, NA19223, NA19461, NA19834, NA19463, NA19383, NA19390, NA19398, NA19429, NA18916, NA12716, NA18510, NA12283, NA18909, HG01108, NA19470, NA12045, NA19468
Known GenesBFSP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673403
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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