A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725669



Internal ID10309305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98126843..98183478hg38UCSC Ensembl
Outerchr3:97845687..97902322hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3856636
hg1956636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv776e201
Supporting Variantsessv6753960, essv6821740, essv6742580, essv6745363, essv6723166, essv6938271, essv6686626, essv6773989, essv6742581, essv6880857, essv6789388, essv6973488, essv6793912, essv6697405, essv6872166, essv6825630, essv6762191, essv6820944, essv6933938, essv6918045, essv6689782, essv6825629, essv6785639, essv6954995, essv6804869, essv6785640, essv6793914, essv6756926, essv6962506, essv6817289, essv6798081, essv6679745, essv6951180, essv6675784, essv6789399, essv6954984, essv6875154, essv6849076, essv6836733, essv6973489, essv6807845, essv6836042, essv6904040, essv6914468, essv6810749, essv6820955, essv6804867, essv6699254, essv6793913, essv6929703, essv6679743, essv6844370, essv6903929, essv6889523, essv6689783, essv6756925, essv6951181, essv6929704, essv6699266, essv6802050, essv6872169, essv6933940, essv6918043, essv6875155, essv6714817, essv6955786, essv6753958, essv6836264
SamplesSSM059, SSM036, SSM083, SSM071, SSM027, SSM075, SSM011, SSM079, SSM038, SSM097, SSM009, SSM073, SSM074, SSM002, SSM058, SSM092, SSM021, SSM069, SSM029, SSM062, SSM026, SSM017, SSM035, SSM094, SSM032, SSM001, SSM033, SSM066, SSM006, SSM085, SSM072, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM076, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM043
Known GenesOR5H1, OR5H14, OR5H15
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2725669
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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