A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739174



Internal ID9973515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133682661..133682853hg38UCSC Ensembl
Outerchr9:136547783..136547975hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709173, essv6850532, essv6948638, essv6698485, essv6819207, essv6823234, essv6856563, essv6724102, essv6827289, essv6862553, essv6687972, essv6958543, essv6908465
SamplesSSM024, SSM045, SSM011, SSM079, SSM087, SSM038, SSM041, SSM026, SSM035, SSM014, SSM086, SSM078, SSM080
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)esv2739174
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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