A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14178519



Internal ID1346452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61640696..61645739hg38UCSC Ensembl
Innerchr11:61640696..61645739hg38UCSC Ensembl
Outerchr11:61640196..61646239hg38UCSC Ensembl
chr11:61408168..61413211hg19UCSC Ensembl
Innerchr11:61408168..61413211hg19UCSC Ensembl
Outerchr11:61407668..61413711hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg385044
hg195044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626584
Supporting Variants
SamplesHG01187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14178519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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