A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607829



Internal ID6994760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181242253..181283113hg38UCSC Ensembl
chr5:180669253..180710114hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3840861
hg1940862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1155e214
Supporting Variantsessv12158598, essv12158596, essv12158594, essv12158597, essv12158595
SamplesHG00693, HG02136, HG03802, HG02807, NA20778
Known GenesGNB2L1, SNORD95, TRIM52, TRIM52-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607829
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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