A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735639



Internal ID10319275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38449855..38450353hg38UCSC Ensembl
Outerchr10:38738783..38739281hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842137, essv6879268, essv6716464, essv6740789, essv6965256, essv6819306
SamplesSSM027, SSM093, SSM084, SSM078, SSM043, SSM052
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)esv2735639
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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