A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970391



Internal ID9728130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1671844..1672248hg38UCSC Ensembl
Outerchr10:1714038..1714442hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730473
Supporting Variants
SamplesSSM028
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)essv6970391
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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