A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12183313



Internal ID4811655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8066003..8067099hg38UCSC Ensembl
Innerchr6:8066017..8067086hg38UCSC Ensembl
Outerchr6:8065990..8067113hg38UCSC Ensembl
chr6:8066236..8067332hg19UCSC Ensembl
Innerchr6:8066250..8067319hg19UCSC Ensembl
Outerchr6:8066223..8067346hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608024
Supporting Variants
SamplesNA12003
Known GenesEEF1E1-BLOC1S5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12183313
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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