A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735243



Internal ID10318879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140481900..140490557hg38UCSC Ensembl
Outerchr7:140181700..140190357hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg388658
hg198658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701479, essv6919227, essv6855771, essv6808704, essv6802837, essv6830513, essv6876010, essv6881695, essv6680729, essv6887300, essv6690791, essv6923419, essv6746194, essv6754829, essv6870064, essv6818656, essv6760304, essv6964184, essv6712181, essv6719790, essv6749001, essv6751872, essv6899987, essv6731223, essv6837785, essv6822780, essv6723583, essv6904057, essv6705887, essv6798542, essv6667751, essv6731353, essv6884500, essv6828509, essv6737232, essv6790884, essv6727477
SamplesSSM100, SSM036, SSM083, SSM075, SSM045, SSM046, SSM079, SSM087, SSM039, SSM013, SSM009, SSM073, SSM050, SSM042, SSM057, SSM058, SSM092, SSM090, SSM047, SSM018, SSM061, SSM096, SSM017, SSM094, SSM044, SSM033, SSM006, SSM081, SSM007, SSM078, SSM010, SSM055, SSM070, SSM095, SSM004, SSM056, SSM030
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)esv2735243
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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