A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656813



Internal ID9922918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135030789..135032328hg38UCSC Ensembl
chr6:135351927..135353466hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381540
hg191540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5429983, essv6185385, essv5818837, essv5909055, essv6148876, essv6506990, essv5683664, essv6323214, essv5453323
SamplesHG00337, HG00334, HG00281, HG00335, HG00176, HG00282, HG00475, NA18532, HG00180
Known GenesHBS1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656813
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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