A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743596



Internal ID10324566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132047371..132047858hg38UCSC Ensembl
Outerchr10:133860875..133861362hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940094, essv6919936, essv6944676, essv6823411, essv6698607, essv6958890, essv6924114, essv6712801, essv6695316, essv6897298, essv6952982, essv6681380, essv6935891, essv6965413, essv6783336, essv6787542, essv6904699
SamplesSSM027, SSM079, SSM038, SSM013, SSM042, SSM023, SSM021, SSM018, SSM069, SSM026, SSM017, SSM033, SSM068, SSM037, SSM022, SSM025, SSM012
Known Genes
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)esv2743596
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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