A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14195776



Internal ID4197592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66552406..66562756hg38UCSC Ensembl
Innerchr11:66552406..66562756hg38UCSC Ensembl
Outerchr11:66552172..66563011hg38UCSC Ensembl
chr11:66319877..66330227hg19UCSC Ensembl
Innerchr11:66319877..66330227hg19UCSC Ensembl
Outerchr11:66319643..66330482hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3810351
hg1910351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626696
Supporting Variants
SamplesHG02070
Known GenesACTN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14195776
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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