A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658777



Internal ID9578196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168704195..168704341hg38UCSC Ensembl
chr5:168131200..168131346hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5742548, essv6108159, essv5420088, essv5523085, essv5532007, essv5474904, essv5522302, essv5792668, essv6036449, essv5614832, essv5505073, essv5520475, essv6255471, essv6479669, essv5998711, essv5423111, essv5830128, essv5656923, essv5863961, essv6358033, essv6290464, essv6002945, essv5705417, essv6081128, essv5639903, essv5977684, essv6517200, essv5523290, essv5660282, essv6391922, essv5953100, essv5741209, essv5784728, essv6162134, essv6386252, essv6371324, essv6363188
SamplesNA18870, NA18520, NA18933, NA18523, NA19311, NA19359, NA19331, HG01488, NA18517, HG00739, NA19379, NA19257, HG00115, NA19239, NA19917, NA19396, NA18856, NA19397, NA19398, NA19440, NA19663, NA19316, NA20341, NA19172, NA19374, NA19375, NA19373, NA18522, NA19238, NA19138, NA18909, NA19391, NA18867, NA18499, NA19240, NA19385, NA19439
Known GenesSLIT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658777
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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