A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739171



Internal ID9973512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133668253..133668937hg38UCSC Ensembl
Outerchr9:136533375..136534059hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884824, essv6834537, essv6763129, essv6752269, essv6856561, essv6927575, essv6838238, essv6912188, essv6866624, essv6760680, essv6771660, essv6958542, essv6803212, essv6894296, essv6755224, essv6799794, essv6672492, essv6842041
SamplesSSM083, SSM065, SSM087, SSM073, SSM057, SSM058, SSM084, SSM061, SSM062, SSM026, SSM089, SSM019, SSM031, SSM072, SSM082, SSM015, SSM095, SSM098
Known GenesSARDH
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)esv2739171
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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