A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669458



Internal ID9935563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195394920..195395162hg38UCSC Ensembl
chr3:195115649..195115891hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6051443, essv5510391, essv6426463, essv6444386, essv6250535, essv5766187, essv6563100, essv5703339, essv6230283, essv6005785, essv6420082, essv5598175, essv6173059, essv5579141, essv5952612, essv5597825, essv5580489, essv6508154, essv5505866, essv5813701, essv5572185, essv5657685, essv5467638, essv5494699, essv5656715, essv6277074, essv5601533, essv6490375, essv6221392, essv5776056, essv6318312, essv6420794, essv6104545, essv5903570, essv5477025, essv5902227, essv5584590, essv5914874, essv6250531, essv6359486, essv6068900, essv6517007, essv6415535, essv5422459, essv5991226, essv6052513, essv5427466, essv5826754, essv5807338, essv6080711, essv5879936
SamplesNA19703, NA19397, NA18980, NA18507, NA19355, NA19443, NA18870, NA07357, NA19396, NA19381, NA19373, NA19379, NA18519, NA19382, NA19315, HG01177, NA18923, NA18916, NA07347, NA18498, NA20291, NA19651, NA18874, NA19917, NA19371, NA18560, NA19235, NA19207, NA19385, NA19172, NA19471, NA19901, NA18520, NA19347, NA18910, NA19099, NA19469, NA19436, NA18953, NA19147, NA20281, NA19360, NA19085, NA19472, NA19093, NA19102, NA19213, NA18983, NA18488, NA07000, NA18562
Known GenesACAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669458
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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