A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677962



Internal ID2911049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51204227..51204366hg38UCSC Ensembl
Outerchr12:51204190..51204416hg38UCSC Ensembl
Innerchr12:51598010..51598149hg19UCSC Ensembl
Outerchr12:51597973..51598199hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6539484, essv6285738
SamplesNA12043, NA06986
Known GenesPOU6F1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677962
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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