A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678673



Internal ID9944778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138187335..138188692hg38UCSC Ensembl
chr7:137872081..137873438hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381358
hg191358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5916537, essv6419666, essv5623194
SamplesNA19137, NA19908, NA19225
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678673
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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