A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732866



Internal ID9967188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149922276..150024804hg38UCSC Ensembl
Outerchr6:150243412..150345940hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38102529
hg19102529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837538, essv6740080, essv6943550, essv6934845, essv6765099, essv6743261, essv6701201, essv6818374, essv6845053, essv6727223, essv6845052, essv6762717, essv6841361, essv6826898, essv6841360, essv6762718, essv6719550, essv6962706, essv6962228, essv6872860, essv6704587, essv6723334, essv6939123, essv6774680, essv6671276, essv6796554, essv6761886, essv6865718, essv6746032, essv6754646, essv6729732, essv6969478, essv6934844, essv6826887, essv6930555, essv6715639, essv6952011, essv6667629, essv6818373, essv6822538, essv6962817, essv6794768, essv6774679, essv6974974, essv6743260, essv6770921, essv6833873, essv6767627, essv6963901, essv6841359, essv6754647, essv6671278, essv6974972, essv6898042, essv6929662, essv6911451, essv6705138, essv6701202
SamplesSSM008, SSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM079, SSM065, SSM039, SSM009, SSM002, SSM023, SSM058, SSM028, SSM084, SSM021, SSM029, SSM062, SSM089, SSM003, SSM031, SSM044, SSM001, SSM066, SSM006, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM043, SSM052, SSM030, SSM063
Known GenesRAET1G, RAET1K, RAET1L, ULBP1, ULBP2
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)esv2732866
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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