A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735650



Internal ID10319286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38449873..38450138hg38UCSC Ensembl
Outerchr10:38738801..38739066hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842137, essv6879268, essv6716464
SamplesSSM093, SSM084, SSM043
Known GenesLINC00999
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)esv2735650
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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