A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607827



Internal ID6994758
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1155e214
Supporting Variantsessv12158591, essv12158590, essv12158592
SamplesHG03802, HG02807, NA20778
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM52, TRIM52-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607827
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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