A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665720



Internal ID9931825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138829762..138838818hg38UCSC Ensembl
chr6:139150899..139159955hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg389057
hg199057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5927144
SamplesHG00372
Known GenesECT2L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665720
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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