A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5606284



Internal ID8583687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1121704..1122522hg38UCSC Ensembl
chr12:1230870..1231688hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668000
Supporting Variants
SamplesNA20541
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5606284
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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