A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6087658



Internal ID9065061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:8065980..8067032hg38UCSC Ensembl
Outerchr6:8065943..8067082hg38UCSC Ensembl
Innerchr6:8066213..8067265hg19UCSC Ensembl
Outerchr6:8066176..8067315hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662813
Supporting Variants
SamplesNA12003
Known GenesEEF1E1-BLOC1S5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6087658
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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