A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738029



Internal ID10321665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68506271..68514501hg38UCSC Ensembl
Outerchr10:70266028..70274258hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg388231
hg198231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736120, essv6672682, essv6705947, essv6684833, essv6746603, essv6698547, essv6850714, essv6891007, essv6755311, essv6702931, essv6685332, essv6912299, essv6812004, essv6736131
SamplesSSM038, SSM097, SSM058, SSM031, SSM001, SSM086, SSM040, SSM007, SSM015, SSM005, SSM076, SSM055, SSM034
Known GenesSLC25A16
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)esv2738029
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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