A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739078



Internal ID10322714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128938558..128939872hg38UCSC Ensembl
Outerchr9:131700837..131702151hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935654, essv6819194, essv6768192, essv6894287, essv6870440, essv6672477, essv6831944, essv6740715, essv6695091, essv6806075, essv6830923, essv6749370, essv6752259, essv6944445, essv6705836, essv6912177, essv6783095, essv6771650, essv6709162, essv6882029, essv6746526, essv6895454, essv6708621, essv6862464, essv6743729, essv6976340, essv6887685, essv6668008, essv6931383, essv6856541, essv6712640, essv6691244
SamplesSSM036, SSM011, SSM064, SSM065, SSM087, SSM074, SSM042, SSM041, SSM057, SSM023, SSM090, SSM021, SSM029, SSM096, SSM094, SSM031, SSM006, SSM068, SSM081, SSM040, SSM020, SSM015, SSM078, SSM053, SSM037, SSM010, SSM055, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesPHYHD1
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)esv2739078
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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