A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5525686



Internal ID8503089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:85550206..85553607hg38UCSC Ensembl
Outerchr6:85550049..85553760hg38UCSC Ensembl
Innerchr6:86259924..86263325hg19UCSC Ensembl
Outerchr6:86259767..86263478hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg383712
hg193712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676282
Supporting Variants
SamplesNA18530
Known GenesSNX14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5525686
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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