A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739030



Internal ID10322666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123405644..123406409hg38UCSC Ensembl
Outerchr9:126167923..126168688hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775315, essv6861871, essv6965086, essv6912171, essv6952778, essv6755214, essv6976333, essv6923884, essv6712636, essv6819188, essv6958515, essv6734912, essv6935647, essv6735321, essv6908449, essv6897344, essv6695089, essv6737592, essv6905763, essv6904520, essv6802532, essv6779041, essv6768198, essv6890915, essv6842028, essv6696153, essv6866608, essv6931375, essv6783091, essv6708575, essv6765526, essv6752254, essv6760670, essv6939904, essv6915770
SamplesSSM008, SSM027, SSM097, SSM013, SSM009, SSM050, SSM042, SSM088, SSM002, SSM057, SSM058, SSM084, SSM021, SSM018, SSM061, SSM029, SSM026, SSM089, SSM067, SSM001, SSM014, SSM066, SSM006, SSM068, SSM020, SSM007, SSM015, SSM078, SSM016, SSM037, SSM022, SSM025, SSM099, SSM049, SSM063
Known GenesDENND1A
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)esv2739030
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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