A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676723



Internal ID9596142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30959899..30962285hg38UCSC Ensembl
chr12:31112834..31115220hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382387
hg192387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5558466, essv6045178, essv5753273, essv5787396, essv6531976, essv6566465, essv6028210, essv5399453
SamplesNA19404, NA18523, NA19900, NA19213, NA19129, NA19703, NA19393, NA19462
Known GenesTSPAN11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676723
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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