A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670216



Internal ID9936321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9163749..9173797hg38UCSC Ensembl
chr19:9274425..9284473hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810049
hg1910049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv622e199
Supporting Variantsessv6413101, essv5898219, essv5590533, essv6066459, essv5469886, essv5912683, essv5981889, essv6537373, essv6344199, essv6387665, essv6494409, essv5545205, essv5782551, essv5396947, essv6003991, essv6362826, essv6140697, essv6525706, essv6316862, essv5580163, essv6501351, essv6149342, essv6069684, essv5483654, essv6225282, essv5824694, essv5765716, essv5452988
SamplesHG00536, HG00187, NA20507, NA20814, NA20796, NA18595, HG00346, HG00185, NA19904, HG00243, HG00512, HG00139, HG01072, NA18557, NA18908, NA12748, HG00188, NA18544, NA18637, NA18534, NA19064, NA19000, NA06989, HG01148, NA20773, NA18941, NA18610, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670216
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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