A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14174903



Internal ID4176719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60093431..60115836hg38UCSC Ensembl
Innerchr11:60093458..60115810hg38UCSC Ensembl
Outerchr11:60093405..60115863hg38UCSC Ensembl
chr11:59860904..59883309hg19UCSC Ensembl
Innerchr11:59860931..59883283hg19UCSC Ensembl
Outerchr11:59860878..59883336hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3822406
hg1922406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626549
Supporting Variants
SamplesNA18864
Known GenesMS4A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14174903
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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