A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723162



Internal ID10306798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220112060..220112419hg38UCSC Ensembl
Outerchr1:220285402..220285761hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972653, essv6836344, essv6692951, essv6883388, essv6781050, essv6707407, essv6793475, essv6675371, essv6722162, essv6955014, essv6810463, essv6889160
SamplesSSM083, SSM071, SSM045, SSM097, SSM041, SSM029, SSM026, SSM032, SSM068, SSM037, SSM076, SSM095
Known GenesIARS2, RNU5F-1
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)esv2723162
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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