A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735928



Internal ID10319564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44414152..44414802hg38UCSC Ensembl
Outerchr10:44909600..44910250hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842138, essv6845702, essv6958725, essv6970450, essv6896287, essv6939992, essv6799882, essv6976564, essv6923998, essv6965265, essv6775421
SamplesSSM027, SSM028, SSM084, SSM018, SSM029, SSM026, SSM066, SSM085, SSM072, SSM022, SSM012
Known Genes
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)esv2735928
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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