A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741495



Internal ID10295611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:118197313..118197669hg38UCSC Ensembl
Outerchr10:119956825..119957181hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965363, essv6931564, essv6924079, essv6882140, essv6862081, essv6850779, essv6787506, essv6698583, essv6856801, essv6876467, essv6672748
SamplesSSM027, SSM087, SSM038, SSM088, SSM092, SSM018, SSM069, SSM094, SSM031, SSM086, SSM020
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)esv2741495
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer