A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605309



Internal ID6992332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66147830..66148369hg38UCSC Ensembl
Innerchr5:66147831..66148369hg38UCSC Ensembl
Outerchr5:66147830..66148370hg38UCSC Ensembl
chr5:65443658..65444197hg19UCSC Ensembl
Innerchr5:65443659..65444197hg19UCSC Ensembl
Outerchr5:65443658..65444198hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11936236, essv11936246, essv11936235, essv11936251, essv11936245, essv11936241, essv11936244, essv11936234, essv11936248, essv11936240, essv11936250, essv11936249, essv11936237, essv11936233, essv11936239, essv11936242, essv11936247, essv11936238, essv11936252, essv11936243
SamplesNA12717, NA12842, HG00102, HG04060, HG02661, HG00364, HG01522, HG03603, HG03874, HG00355, NA20910, HG01200, HG01498, HG03755, HG02223, HG02682, HG02611, NA20527, NA20786, NA20908
Known GenesSREK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605309
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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