A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948674



Internal ID9708814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1489104..1489501hg38UCSC Ensembl
Outerchr10:1531299..1531696hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729951
Supporting Variants
SamplesSSM024
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)essv6948674
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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