A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676176



Internal ID9595595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24303819..24306370hg38UCSC Ensembl
Outerchr12:24303782..24306420hg38UCSC Ensembl
Innerchr12:24456753..24459304hg19UCSC Ensembl
Outerchr12:24456716..24459354hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6491370
SamplesNA19684
Known GenesSOX5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676176
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