A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730899



Internal ID10314535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148910178..148911523hg38UCSC Ensembl
Outerchr5:148289741..148291086hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6778034, essv6793599, essv6956744, essv6841094, essv6922909, essv6743013, essv6719272, essv6875565, essv6903595, essv6711699, essv6805291, essv6736850, essv6943199, essv6811183, essv6844777, essv6930306, essv6959329, essv6886820, essv6963468, essv6814190, essv6759894, essv6826238, essv6774476, essv6697818, essv6873153, essv6938845, essv6786237, essv6704861, essv6878496, essv6680258, essv6886896, essv6730738, essv6974510, essv6911167, essv6833640, essv6918594, essv6694002, essv6794505, essv6690287, essv6748615, essv6914954, essv6762516, essv6854996, essv6860632, essv6837284, essv6754393, essv6818014, essv6869574, essv6700887, essv6745827, essv6824765, essv6940706, essv6802449, essv6865403
SamplesSSM036, SSM083, SSM071, SSM027, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM023, SSM058, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM067, SSM044, SSM001, SSM033, SSM066, SSM085, SSM040, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM055, SSM004, SSM056, SSM012
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)esv2730899
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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