A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670631



Internal ID9936736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:33558679..33565085hg38UCSC Ensembl
Outerchr13:33558308..33565455hg38UCSC Ensembl
Innerchr13:34132816..34139222hg19UCSC Ensembl
Outerchr13:34132445..34139592hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg387148
hg197148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv345e199
Supporting Variantsessv5512575, essv5791319, essv6530683, essv5642044, essv5616017, essv5829459, essv6574188, essv5632982, essv5838169, essv6503808, essv6009037, essv5644000, essv5869734, essv6167859, essv5677009, essv5853315
SamplesNA19703, NA20356, NA19920, NA20287, NA20291, NA19901, NA20342, NA19985, NA19908, NA19982, NA20341, NA19818, NA20348, NA19713, NA20289, NA19900
Known GenesSTARD13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670631
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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