A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732285



Internal ID9966604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73208913..73223595hg38UCSC Ensembl
Outerchr6:73918636..73933318hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3814683
hg1914683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841302, essv6881455, essv6770872, essv6923117, essv6855295, essv6805473, essv6715579, essv6961640, essv6694196, essv6875772, essv6723276, essv6736994, essv6808463, essv6888310, essv6802602, essv6734391, essv6680444, essv6860918, essv6830215, essv6845000, essv6774632, essv6790559, essv6849196, essv6837471, essv6963796, essv6826448, essv6701126, essv6767582, essv6690509, essv6929074, essv6811358, essv6794695, essv6884275, essv6697949, essv6826377, essv6798907, essv6676617, essv6943480, essv6704131, essv6930480, essv6795987, essv6765055, essv6711886, essv6951953, essv6855587, essv6671164, essv6957068, essv6896804, essv6743214, essv6915114, essv6786446, essv6708485, essv6918876, essv6872810, essv6761376, essv6730924, essv6745969, essv6740015, essv6947844, essv6729331
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM065, SSM087, SSM038, SSM039, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM092, SSM084, SSM047, SSM018, SSM069, SSM026, SSM017, SSM094, SSM032, SSM003, SSM031, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM020, SSM007, SSM016, SSM053, SSM080, SSM037, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM063, SSM012
Known GenesKHDC1L
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)esv2732285
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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