A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677655



Internal ID9943760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158892891..158897617hg38UCSC Ensembl
chr6:159313923..159318649hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg384727
hg194727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6151573, essv5661296, essv6150099, essv5988415, essv6338094, essv5572143, essv5545852, essv5568655, essv5863024, essv6098734, essv6411186, essv6293831
SamplesHG00650, NA19057, NA18582, NA19075, NA18557, HG00692, HG00613, NA18553, NA18535, NA19083, NA18983, HG00593
Known GenesC6orf99
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677655
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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