A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731768



Internal ID9966086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29741430..29812888hg38UCSC Ensembl
Outerchr6:29709207..29780665hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3871459
hg1971459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723165, essv6849032, essv6770728, essv6808333, essv6974686, essv6711770, essv6715438, essv6887511, essv6770729, essv6911259, essv6818148, essv6938916, essv6770730, essv6794421, essv6899624, essv6879486, essv6943290, essv6708355, essv6700993, essv6754470, essv6736915, essv6727965, essv6969292, essv6770732, essv6697875, essv6855143, essv6893446, essv6730810, essv6687188, essv6677733, essv6893445, essv6869626, essv6934642, essv6794399, essv6844840, essv6703232, essv6890151, essv6794388, essv6690362, essv6963630, essv6734302, essv6841184, essv6860745, essv6918680, essv6890153
SamplesSSM100, SSM036, SSM027, SSM075, SSM045, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM050, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM029, SSM017, SSM035, SSM086, SSM006, SSM085, SSM007, SSM015, SSM078, SSM005, SSM022, SSM043, SSM098, SSM049, SSM012
Known GenesHCG4, HLA-F-AS1, IFITM4P, LOC554223
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)esv2731768
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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