A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741506



Internal ID10295622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:118197501..118197619hg38UCSC Ensembl
Outerchr10:119957013..119957131hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6908613, essv6862081, essv6850779, essv6856801, essv6672748
SamplesSSM087, SSM088, SSM031, SSM014, SSM086
Known GenesCASC2
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)esv2741506
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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