A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675884



Internal ID9595303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165693497..165694036hg38UCSC Ensembl
chr4:166614649..166615188hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6303435, essv5627979, essv6065530, essv6580159, essv5786937, essv6592278, essv5617192, essv5446107, essv6534837, essv5901727, essv5430099, essv6437190, essv6477410, essv5553429, essv5772996, essv5860421, essv6261065, essv6584043, essv6238181, essv6379070, essv6036252, essv5545687, essv6279156, essv5705021, essv5533146, essv6145923, essv5988827, essv5728527, essv6006635, essv6027826, essv5855461
SamplesNA19312, NA19404, NA19437, NA20531, NA19469, NA20802, NA19359, NA19236, NA19472, NA19467, NA19147, NA19463, NA19390, NA19471, NA19396, NA18856, NA19190, NA19360, NA19395, NA19172, NA19189, NA19375, NA19332, NA19711, NA19462, NA19446, NA19470, NA19346, NA19350, NA19092, NA18519
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675884
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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