A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678451



Internal ID9944556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65179566..65182423hg38UCSC Ensembl
chr8:66091801..66094658hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382858
hg192858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1290e199
Supporting Variantsessv6292402, essv5881094, essv5532486, essv6107837, essv5886634, essv5834067, essv5657254, essv5776686, essv5403118, essv5594648, essv6402871, essv5686957, essv6174570, essv5708760, essv5473820, essv6310900, essv6521513, essv5876836, essv6386680, essv6292961, essv5653019, essv5527162, essv5434222, essv5894068, essv5438844, essv6091798, essv5654858, essv5476001, essv5713715, essv5925329, essv5951444, essv6368471, essv6266180, essv5540595, essv6572523, essv5572048, essv6422479, essv5741880, essv6160789, essv5749098, essv5440931, essv5707828, essv6416673, essv5863882, essv5411609, essv5776522, essv5866169, essv6313979, essv5781274, essv6174644, essv5465481, essv5641960, essv5546933, essv6078450, essv5744005
SamplesHG01060, NA19701, HG01173, NA19399, NA19914, NA19332, NA19704, NA19350, NA19819, NA19393, NA19446, NA19374, NA19381, NA19373, NA19379, HG01365, NA19384, NA19404, NA19383, NA19372, NA19371, NA19385, NA19456, NA19437, NA19403, NA19391, NA19455, NA18910, NA19338, NA19452, NA19395, NA19401, NA19375, NA19440, NA19834, NA19321, NA19434, NA19444, HG01375, NA19428, NA19467, HG01137, HG01108, NA19360, NA19818, NA19328, NA19438, NA19472, NA19468, NA19900, NA19430, NA19312, HG00554, NA19346, NA19431
Known GenesLINC00251
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678451
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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