A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662818



Internal ID9928923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137861354..137862214hg38UCSC Ensembl
chr6:138182491..138183351hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5694330, essv5755732, essv6265058, essv6072638, essv6410055, essv5457429, essv5457720, essv5523678
SamplesNA19394, NA18486, NA11993, HG01149, NA18907, NA18593, NA19401, NA18501
Known GenesLOC100130476
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662818
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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