A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737402



Internal ID10321038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:106519514..106520756hg38UCSC Ensembl
Outerchr8:107531742..107532984hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850234, essv6768056, essv6939721, essv6805940, essv6904379, essv6887548, essv6923709, essv6683543, essv6861662, essv6894123, essv6760560, essv6873274, essv6838067, essv6746412, essv6814935, essv6958212, essv6966717, essv6944245, essv6919559, essv6801277, essv6927417, essv6976042, essv6799589, essv6737467, essv6743613, essv6795406, essv6841891, essv6701808, essv6934140, essv6775182, essv6952616, essv6731530, essv6803072, essv6709007, essv6830780, essv6935448, essv6782923
SamplesSSM083, SSM071, SSM064, SSM039, SSM013, SSM009, SSM073, SSM050, SSM074, SSM088, SSM041, SSM023, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM026, SSM017, SSM019, SSM003, SSM086, SSM066, SSM068, SSM081, SSM072, SSM053, SSM005, SSM077, SSM022, SSM091, SSM055, SSM025, SSM004, SSM098
Known GenesOXR1
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)esv2737402
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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