A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674978



Internal ID9941083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38344064..38378766hg38UCSC Ensembl
chr7:38383665..38418367hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3834703
hg1934703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5845340, essv5479302
SamplesHG01060, HG01516
Known GenesTRG-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674978
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