A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729696



Internal ID9964011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1326814..1327062hg38UCSC Ensembl
Outerchr10:1369009..1369257hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv75e201
Supporting Variantsessv6819232, essv6806095, essv6965158, essv6952832, essv6799835
SamplesSSM027, SSM074, SSM072, SSM078, SSM025
Known GenesADARB2
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)esv2729696
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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