A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738244



Internal ID9972584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:17277035..17277284hg38UCSC Ensembl
Outerchr9:17277033..17277282hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964935, essv6958355, essv6861553, essv6908354, essv6894201, essv6823129, essv6887613
SamplesSSM027, SSM011, SSM079, SSM096, SSM026, SSM014, SSM098
Known GenesCNTLN
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)esv2738244
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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