A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850587



Internal ID9902324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592410..1592665hg38UCSC Ensembl
Outerchr10:1634605..1634860hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730284, esv2730217, esv2730239, esv2730273, esv2730228, esv2730251, esv2730262
Supporting Variants
SamplesSSM086
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)essv6850587
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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