A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730228



Internal ID9964544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592354..1592666hg38UCSC Ensembl
Outerchr10:1634549..1634861hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e201
Supporting Variantsessv6791469, essv6866667, essv6935963, essv6958628, essv6830960, essv6904569, essv6783161, essv6887716, essv6787370, essv6850588, essv6705879, essv6894337, essv6850587, essv6908487, essv6720333, essv6827325, essv6724141, essv6915817, essv6771711, essv6731745, essv6691283, essv6948679, essv6952837, essv6799840, essv6702051, essv6919774, essv6712679, essv6695141, essv6897367
SamplesSSM036, SSM024, SSM045, SSM065, SSM039, SSM013, SSM042, SSM047, SSM069, SSM096, SSM026, SSM089, SSM017, SSM003, SSM044, SSM014, SSM086, SSM068, SSM081, SSM040, SSM072, SSM016, SSM080, SSM037, SSM070, SSM025, SSM099, SSM098
Known GenesADARB2
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)esv2730228
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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