A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657211



Internal ID9923316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146888817..146899088hg38UCSC Ensembl
chr6:147209953..147220224hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3810272
hg1910272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6187106, essv6495967, essv6257209, essv5956558
SamplesNA19003, NA18943, NA18987, NA18984
Known GenesSTXBP5-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657211
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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