A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5595781



Internal ID9347754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134268178..134273584hg38UCSC Ensembl
Outerchr6:134267807..134273954hg38UCSC Ensembl
Innerchr6:134589316..134594722hg19UCSC Ensembl
Outerchr6:134588945..134595092hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg386148
hg196148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677003
Supporting Variants
SamplesNA18544
Known GenesSGK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5595781
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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