A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678034



Internal ID9944139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204652729..204654531hg38UCSC Ensembl
chr2:205517452..205519254hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5785598, essv6454340, essv5410291, essv6119099, essv5931663, essv5662345, essv5945704, essv6022098, essv5450291, essv6289942, essv6515081, essv5652894, essv5604656, essv5517443, essv5766443, essv6016760, essv6522997, essv5599253, essv5631499, essv6012385, essv5766914, essv5589304, essv6527599, essv6062646, essv6091863, essv6062759, essv5793771, essv5431975, essv5700551, essv5681696, essv5517242, essv5404864, essv5987141, essv5587041, essv5961842, essv5716492
SamplesNA19703, NA19397, NA18861, NA19396, NA19319, HG01488, NA19119, NA18923, NA20336, NA19384, HG01110, HG01134, NA18874, HG01170, NA19172, NA19317, HG01440, HG01048, NA18908, NA18499, NA19469, HG01107, NA20296, NA19401, NA19375, NA19390, NA19108, NA19470, NA20281, NA19376, NA19438, NA19472, NA19223, NA20334, NA19312, NA18522
Known GenesPARD3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678034
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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