A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664943



Internal ID9931048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41187261..41191567hg38UCSC Ensembl
Outerchr19:41186890..41191937hg38UCSC Ensembl
Innerchr19:41693166..41697472hg19UCSC Ensembl
Outerchr19:41692795..41697842hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv644e199
Supporting Variantsessv5776387, essv5628625, essv6290552, essv5474388, essv5547947, essv5457027, essv5525008, essv6407765, essv5405646, essv6355451, essv6022380, essv5883190, essv6264689, essv5647031, essv5981645, essv6088605, essv6312288, essv6426800, essv5799100, essv6157837, essv5414478
SamplesNA19394, NA19443, NA19373, NA19379, NA19313, NA19404, NA19347, NA19391, NA19455, NA19318, NA19436, NA19440, NA19331, NA19334, NA19467, NA19438, NA19468, NA19430, NA19429, NA19346, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664943
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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