A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670577



Internal ID9936682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138196858..138197775hg38UCSC Ensembl
chr5:137532547..137533464hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5503303, essv5442878, essv5651852, essv5576934, essv6079803, essv6009918, essv5711522, essv6422204, essv5451475, essv5523546, essv6140123, essv5539295, essv5504679, essv5728899, essv5803048, essv6030669, essv6359323, essv6011050, essv6494021, essv6361443
SamplesNA19350, NA19393, NA19777, NA19443, NA19374, NA19373, NA19315, NA18923, NA19707, NA19462, NA19327, NA19455, NA19982, NA18871, NA19390, NA19835, NA19470, NA19248, NA19438, NA19474
Known GenesCDC23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670577
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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