A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743458



Internal ID10324428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:130300825..130301364hg38UCSC Ensembl
Outerchr10:132099089..132099628hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924097, essv6716547, essv6791605, essv6809201, essv6737719, essv6720463, essv6900463, essv6823396, essv6771838, essv6940081, essv6815249, essv6873510, essv6819433, essv6834677
SamplesSSM100, SSM075, SSM079, SSM065, SSM050, SSM018, SSM044, SSM082, SSM078, SSM077, SSM022, SSM091, SSM070, SSM043
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)esv2743458
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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