A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739762



Internal ID10323398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96231769..96232722hg38UCSC Ensembl
Outerchr10:97991525..97992478hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856773, essv6927700, essv6746624, essv6976649, essv6740828, essv6896809, essv6769420, essv6924054, essv6735008, essv6970498, essv6681331, essv6842171, essv6702164, essv6906819, essv6912315, essv6765613, essv6716508, essv6737693
SamplesSSM008, SSM087, SSM039, SSM050, SSM002, SSM028, SSM084, SSM018, SSM029, SSM019, SSM033, SSM015, SSM055, SSM043, SSM052, SSM049, SSM063, SSM012
Known GenesBLNK
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)esv2739762
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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