A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12158592



Internal ID6612478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181241739..181271679hg38UCSC Ensembl
chr5:180668739..180698680hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3829941
hg1929942
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607827
Supporting Variants
SamplesNA20778
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM52, TRIM52-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12158592
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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