A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736913



Internal ID9971246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40600809..40601941hg38UCSC Ensembl
Outerchr8:40458328..40459460hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800798, essv6765402, essv6933830, essv6893488, essv6908228, essv6752096, essv6890735, essv6870272, essv6830520, essv6876202, essv6757826, essv6760516, essv6778829, essv6856186, essv6884672, essv6931143, essv6904584, essv6838021, essv6944183, essv6701756, essv6672083, essv6746373, essv6737430, essv6939679, essv6755039, essv6766364, essv6749217, essv6881874, essv6970082, essv6975946, essv6952575, essv6860520, essv6740519, essv6964723, essv6935401, essv6712436, essv6771441, essv6866336
SamplesSSM059, SSM008, SSM083, SSM027, SSM011, SSM065, SSM087, SSM097, SSM039, SSM009, SSM050, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM061, SSM029, SSM089, SSM094, SSM003, SSM031, SSM067, SSM014, SSM020, SSM022, SSM010, SSM055, SSM095, SSM025, SSM052, SSM056, SSM063, SSM012
Known GenesZMAT4
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)esv2736913
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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