A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958626



Internal ID9720449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1547645..1547743hg38UCSC Ensembl
Outerchr10:1589840..1589938hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730117, esv2730128, esv2730106
Supporting Variants
SamplesSSM026
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)essv6958626
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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