A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6720332



Internal ID9784542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1541484..1542897hg38UCSC Ensembl
Outerchr10:1583679..1585092hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730084
Supporting Variants
SamplesSSM044
Known GenesADARB2, ADARB2-AS1
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)essv6720332
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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