A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677721



Internal ID9597140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110847352..110848350hg38UCSC Ensembl
chr6:111168555..111169553hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6374683, essv6394061, essv5648261
SamplesHG01082, HG00177, HG00338
Known GenesAMD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677721
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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