A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736752



Internal ID9971084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23072937..23106406hg38UCSC Ensembl
Outerchr8:22930450..22963919hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3833470
hg1933470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830398, essv6841827, essv6795324, essv6890719, essv6904451, essv6870254, essv6733499, essv6931127, essv6749203, essv6731477, essv6856157, essv6876189, essv6919503, essv6944161, essv6705630, essv6838008, essv6672056, essv6911947, essv6850133, essv6958092, essv6805899, essv6923648, essv6808875, essv6765392, essv6701736, essv6915592, essv6727708, essv6873223, essv6830730, essv6677158, essv6768014, essv6723868, essv6879039, essv6755025, essv6800643, essv6712423, essv6893277, essv6927370, essv6900151, essv6720059, essv6791178, essv6966217, essv6845451, essv6708956, essv6822982, essv6737419
SamplesSSM010, SSM007, SSM092, SSM086, SSM091, SSM084, SSM042, SSM040, SSM090, SSM064, SSM031, SSM020, SSM071, SSM016, SSM032, SSM039, SSM045, SSM083, SSM050, SSM097, SSM041, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM047, SSM002, SSM063, SSM087, SSM046, SSM019, SSM023, SSM079, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM018, SSM058, SSM081, SSM070
Known GenesLOC254896, LOC286059, TNFRSF10C
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)esv2736752
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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