A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676513



Internal ID9942618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138186962..138195956hg38UCSC Ensembl
chr6:138508099..138517093hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg388995
hg198995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6227984, essv6517085
SamplesNA19819, NA19818
Known GenesKIAA1244
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676513
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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