A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721882



Internal ID10305518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239930596..239931123hg38UCSC Ensembl
Outerchr2:240870013..240870540hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830375, essv6820187, essv6748143, essv6864572, essv6739259, essv6881054, essv6788688, essv6736359, essv6759416, essv6955603, essv6840452, essv6906627, essv6750972, essv6933824, essv6742508, essv6859786, essv6973280, essv6770026, essv6745294, essv6962354
SamplesSSM027, SSM065, SSM009, SSM050, SSM088, SSM002, SSM057, SSM084, SSM021, SSM061, SSM029, SSM026, SSM089, SSM014, SSM053, SSM010, SSM055, SSM052, SSM056, 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)esv2721882
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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