A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673792



Internal ID9939897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29455172..29457364hg38UCSC Ensembl
chr17:27782190..27784382hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382193
hg192193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6257493, essv6099834, essv5958788, essv5421235, essv6341965, essv6137189, essv6484619, essv5713748, essv5495226, essv5563652, essv5900301, essv5928097, essv6419345, essv6017306, essv5966533, essv5572696, essv5594308, essv6305173, essv5983001, essv6061731, essv6584604, essv5752852, essv5769759, essv6373932, essv5839817, essv6197281, essv6118124, essv5435471, essv5468802, essv6368673, essv5990935, essv6424057, essv6035113, essv5616256
SamplesNA19701, NA19397, NA19332, NA20813, NA18486, NA20332, NA19377, HG01051, NA19920, NA18510, NA19379, NA19319, NA18489, NA19383, NA19901, NA19456, NA18933, NA19391, NA19455, NA18910, NA19461, NA19449, NA18912, NA19338, NA19436, NA19375, NA19712, NA19434, NA19435, HG01108, NA19713, NA19213, NA19316, NA19346
Known GenesTAOK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673792
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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