A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14034135



Internal ID4035951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14498858..14549991hg38UCSC Ensembl
chr11:14520404..14571537hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3851134
hg1951134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625423
Supporting Variants
SamplesHG02221
Known GenesCOPB1, PSMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14034135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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