A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14018286



Internal ID5946393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:8427961..8428521hg38UCSC Ensembl
Innerchr11:8427991..8428492hg38UCSC Ensembl
Outerchr11:8427932..8428551hg38UCSC Ensembl
chr11:8449508..8450068hg19UCSC Ensembl
Innerchr11:8449538..8450039hg19UCSC Ensembl
Outerchr11:8449479..8450098hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625314
Supporting Variants
SamplesNA19360
Known GenesSTK33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14018286
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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