A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667214



Internal ID9933319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13501502..13501687hg38UCSC Ensembl
chr1:13827952..13828141hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38186
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6220064, essv6136422, essv5453421, essv5878044, essv6251516, essv5979848, essv6335162, essv6174435, essv5996246, essv6327539, essv6597905, essv6129928, essv5528342, essv6404963, essv5968490, essv5926579, essv5688382, essv5887391, essv6551447, essv5752641, essv5678857, essv6351454, essv5430608, essv6597214, essv5490185, essv5571879, essv6434833, essv6276556, essv6465113, essv5629333, essv6282862, essv5882652, essv6010861, essv5529075, essv6165043, essv6472157, essv6300070, essv6527450, essv6270017, essv6354439, essv5693025, essv5654703, essv5540905, essv5507820, essv5499304, essv6097172, essv5652502, essv5633266, essv5817662, essv5474916, essv6110467, essv5997060, essv5996805, essv6049111, essv5849354, essv6375468, essv6045496, essv6133155, essv5589979, essv6574648, essv5447578, essv5645853, essv5525495, essv6486467, essv6009858, essv6554198, essv6272089, essv6010364, essv6010231, essv5437821, essv5424672, essv5527918, essv5883876, essv6295186, essv6581615, essv6525437, essv6307016, essv6405631, essv5927303, essv5627382, essv5829553
SamplesHG00096, NA19394, HG01060, HG01441, NA19397, HG00608, HG00249, NA11995, NA10851, HG00524, NA19399, HG01052, HG00318, NA18633, NA12155, HG00327, NA19374, NA19396, NA18940, HG01366, HG01070, HG00589, HG01492, NA11918, NA07347, HG00346, HG01365, HG00158, NA11930, HG00512, HG00281, HG00277, HG01069, NA19383, HG00232, NA19371, HG00309, HG00253, HG00108, HG01353, HG00313, HG00137, HG01187, HG00282, HG01384, NA12003, NA19391, HG00584, HG00533, HG00583, NA18548, HG00324, HG00651, HG00690, NA11894, NA18856, HG01334, NA19225, NA19395, HG00336, NA19321, HG00136, HG01174, HG01375, HG00607, NA19428, NA19360, HG00125, NA20341, HG00421, NA19093, HG00123, NA18636, HG00698, NA19116, NA18552, HG00252, HG01377, HG00345, HG01437, HG00437
Known GenesLRRC38
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667214
Frequency
Sample Size1151
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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