A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6935952



Internal ID9641756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1547596..1547866hg38UCSC Ensembl
Outerchr10:1589791..1590061hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730117, esv2730106
Supporting Variants
SamplesSSM003
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)essv6935952
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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