A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737587



Internal ID10321223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130838489..130840501hg38UCSC Ensembl
Outerchr8:131850735..131852747hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701842, essv6787157, essv6771507, essv6765441, essv6838082, essv6861702, essv6900218, essv6952636, essv6934285, essv6887570, essv6958253, essv6948491, essv6845516, essv6894031, essv6811826, essv6944270, essv6687264, essv6884723, essv6752145, essv6927435, essv6782941, essv6894149, essv6876246, essv6908312, essv6737480, essv6830943, essv6881934, essv6964849, essv6819026, essv6904985, essv6684613, essv6677258, essv6939743, essv6694929, essv6923725, essv6808951
SamplesSSM100, SSM083, SSM027, SSM024, SSM075, SSM065, SSM039, SSM050, SSM088, SSM002, SSM057, SSM023, SSM092, SSM018, SSM069, SSM096, SSM026, SSM019, SSM094, SSM032, SSM003, SSM001, SSM014, SSM085, SSM068, SSM078, SSM037, SSM076, SSM022, SSM010, SSM095, SSM025, SSM034, SSM098, SSM063, SSM012
Known GenesADCY8
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)esv2737587
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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