A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739072



Internal ID9973413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128464571..128464915hg38UCSC Ensembl
Outerchr9:131226850..131227194hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939905, essv6740713, essv6696487, essv6768191, essv6919717, essv6935584, essv6768242, essv6734916, essv6737595, essv6716344, essv6681197, essv6771649, essv6895443, essv6927561, essv6802565, essv6731698, essv6952782, essv6746525, essv6752258, essv6876353, essv6755218, essv6965090, essv6976338, essv6970326, essv6958523, essv6819193, essv6708610, essv6668007, essv6931382, essv6856539, essv6842030, essv6763125, essv6968041, essv6743727, essv6749369, essv6735354, essv6775322, essv6904524, essv6915775, essv6935653, essv6905819
SamplesSSM008, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM001, SSM033, SSM066, SSM006, SSM020, SSM007, SSM078, SSM016, SSM053, SSM022, SSM055, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM012
Known GenesODF2
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)esv2739072
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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