A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14207284



Internal ID1811748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70136324..70138289hg38UCSC Ensembl
Innerchr11:70136352..70138261hg38UCSC Ensembl
Outerchr11:70136296..70138317hg38UCSC Ensembl
chr11:69982430..69984395hg19UCSC Ensembl
Innerchr11:69982458..69984367hg19UCSC Ensembl
Outerchr11:69982402..69984423hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381966
hg191966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626760
Supporting Variants
SamplesHG01684
Known GenesANO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14207284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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