A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657021



Internal ID9923126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178681255..178688092hg38UCSC Ensembl
chr5:178108256..178115093hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386838
hg196838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1062e199
Supporting Variantsessv6094993, essv5806902, essv6070958, essv5488796, essv5535457, essv5545071, essv5653329, essv5905889, essv5400932, essv5407164, essv6453243, essv6042307, essv5534664, essv6514766, essv5714017, essv5713125, essv6266559, essv5403563, essv5626881
SamplesNA19648, NA19746, NA19728, NA19723, NA19782, NA19720, NA19789, NA19663, NA19654, NA19675, NA19749, NA19773, NA19679, NA19786, NA19783, NA19716, NA19780, NA19661, NA19758
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657021
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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