A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719737



Internal ID10303373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16110964..16111322hg38UCSC Ensembl
Outerchr2:16251086..16251444hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683062, essv6793596, essv6968253, essv6972846, essv6846242, essv6825282, essv6946769, essv6804626, essv6813418, essv6955218, essv6886191, essv6942113, essv6801826, essv6689517, essv6686383, essv6785300, essv6707516, essv6669406, essv6847454, essv6853647, essv6902791, essv6864293, essv6697179, essv6699920, essv6836462, essv6773706, essv6675479, essv6906371, essv6961993, essv6816907, essv6821458, essv6868934
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM011, SSM079, SSM087, SSM038, SSM039, SSM013, SSM073, SSM074, SSM041, SSM023, SSM028, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM014, SSM086, SSM066, SSM078, SSM080, SSM077, SSM034
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)esv2719737
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