A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662853



Internal ID9582272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135460996..135462540hg38UCSC Ensembl
chr6:135782134..135783678hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381545
hg191545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5902526, essv6510326, essv5834888, essv6466855, essv5414348, essv6273224, essv5772414, essv6193587, essv6405334
SamplesHG01055, HG01051, NA19467, HG01097, HG00640, HG01073, NA18907, HG00641, NA19092
Known GenesAHI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662853
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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