A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739940



Internal ID10323576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97829449..97830140hg38UCSC Ensembl
Outerchr10:99589206..99589897hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724225, essv6958801, essv6787482, essv6731844, essv6712770, essv6831051, essv6944617, essv6799928, essv6672725, essv6677558, essv6919877, essv6702173, essv6924057
SamplesSSM045, SSM039, SSM042, SSM023, SSM047, SSM018, SSM069, SSM026, SSM017, SSM032, SSM031, SSM081, SSM072
Known GenesLINC00866
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)esv2739940
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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