A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669983



Internal ID9936088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96368312..96370218hg38UCSC Ensembl
Outerchr5:96367941..96370588hg38UCSC Ensembl
Innerchr5:95704016..95705922hg19UCSC Ensembl
Outerchr5:95703645..95706292hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1029e199
Supporting Variantsessv5404175, essv6459395, essv6156090, essv6087359, essv6053826, essv6220830, essv5972135, essv5930385, essv5923489, essv5708024, essv6463307, essv5975155, essv6373279, essv5773419, essv5475694, essv6324469, essv6159809, essv5619338
SamplesNA19466, NA19443, NA19313, NA19372, NA19445, NA19462, NA19347, NA19455, NA19461, NA19449, NA19434, NA19331, NA19324, NA19467, NA19360, NA19468, NA19312, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669983
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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