A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736919



Internal ID9971252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601621..40601798hg38UCSC Ensembl
Outerchr8:40459140..40459317hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672083, essv6778829, essv6866336, essv6944183, essv6881874, essv6908228, essv6890735, essv6701756, essv6870272, essv6860520
SamplesSSM089, SSM090, SSM031, SSM039, SSM067, SSM094, SSM097, SSM011, SSM023, SSM014
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)esv2736919
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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