A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737770



Internal ID9972109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141334665..141336073hg38UCSC Ensembl
Outerchr8:142344764..142346172hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723950, essv6850310, essv6908320, essv6944286, essv6905085, essv6787169, essv6740594, essv6801521, essv6904404, essv6701852, essv6765449, essv6688043, essv6743639, essv6778904, essv6964870, essv6838096, essv6672238, essv6866441, essv6935498, essv6939767, essv6861719, essv6782959, essv6667942, essv6952655, essv6958280, essv6795445, essv6819040, essv6727801, essv6894165, essv6850311, essv6870337, essv6755110, essv6873300, essv6749274, essv6799629, essv6707920, essv6876256, essv6672239, essv6866442, essv6677270, essv6734837, essv6856330, essv6763044, essv6720159, essv6931235, essv6908321
SamplesSSM083, SSM071, SSM027, SSM045, SSM046, SSM087, SSM039, SSM013, SSM009, SSM088, SSM002, SSM023, SSM058, SSM092, SSM090, SSM021, SSM069, SSM062, SSM026, SSM089, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM006, SSM068, SSM072, SSM020, SSM078, SSM053, SSM022, SSM091, SSM025, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063
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)esv2737770
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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