A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721874



Internal ID10305510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239914093..239915089hg38UCSC Ensembl
Outerchr2:240853510..240854506hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722464, essv6750971, essv6881043, essv6869089, essv6883611, essv6933822, essv6910554, essv6899005, essv6714720, essv6829454, essv6880771, essv6733805, essv6697338, essv6825517, essv6954173, essv6804795, essv6736357, essv6830153, essv6833030, essv6864152, essv6896182, essv6748141, essv6817169, essv6753054, essv6864571, essv6788666, essv6711061, essv6853989, essv6764493, essv6878012, essv6962353, essv6770025
SamplesSSM100, SSM008, SSM027, SSM045, SSM065, SSM087, SSM038, SSM009, SSM093, SSM050, SSM074, SSM042, SSM002, SSM057, SSM090, SSM021, SSM089, SSM094, SSM001, SSM081, SSM082, SSM015, SSM078, SSM080, SSM095, SSM004, SSM099, SSM043, SSM049, SSM056, SSM063, 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)esv2721874
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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