A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731425



Internal ID10315061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1441068..1442003hg38UCSC Ensembl
Outerchr6:1441303..1442238hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927207, essv6734270, essv6745870, essv6730776, essv6959662, essv6704894, essv6754438, essv6837323, essv6822359, essv6727710, essv6764926, essv6825065, essv6782080, essv6798729, essv6974611, essv6719307, essv6694052, essv6759941, essv6918638, essv6690326, essv6930346, essv6890111, essv6711736, essv6702898, essv6893398, essv6759553, essv6814223, essv6736883, essv6767424, essv6818081, essv6670970, essv6865459, essv6876709, essv6903628, essv6887219, essv6757318, essv6794054, essv6934602, essv6944150, essv6830080, essv6676443, essv6826278, essv6708316, essv6875610, essv6739881, essv6751508, essv6963558, essv6956835
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM064, SSM079, SSM097, SSM013, SSM009, SSM050, SSM042, SSM002, SSM041, SSM057, SSM058, SSM092, SSM021, SSM047, SSM061, SSM029, SSM026, SSM089, SSM017, SSM032, SSM003, SSM031, SSM044, SSM001, SSM006, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM078, SSM080, SSM037, SSM077, SSM010, SSM055, SSM004, SSM052, SSM098, SSM049, SSM063, SSM012
Known Genes
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)esv2731425
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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