A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724225



Internal ID10307861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38229588..38230200hg38UCSC Ensembl
Outerchr22:38625594..38626206hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813040, essv6773250, essv6915596, essv6901472, essv6725638, essv6807239, essv6846836, essv6678969, essv6905947, essv6707124
SamplesSSM100, SSM045, SSM065, SSM013, SSM074, SSM002, SSM032, SSM085, SSM040, SSM076
Known GenesTMEM184B
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)esv2724225
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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