A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739213



Internal ID9973554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134469848..134471608hg38UCSC Ensembl
Outerchr9:137361694..137363454hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381761
hg191761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919735, essv6856571, essv6944462, essv6819213, essv6815113, essv6845644, essv6771668, essv6965116, essv6832010, essv6935668, essv6724107, essv6958552, essv6695108, essv6948645, essv6775333, essv6775334, essv6783116, essv6866629, essv6815114, essv6887695, essv6944463, essv6894304, essv6819214, essv6708687, essv6697153, essv6970346, essv6939921, essv6935695, essv6952800, essv6965118, essv6915790
SamplesSSM027, SSM024, SSM045, SSM065, SSM087, SSM023, SSM028, SSM021, SSM096, SSM026, SSM089, SSM017, SSM003, SSM001, SSM066, SSM006, SSM085, SSM068, SSM078, SSM016, SSM037, SSM077, SSM022, SSM010, SSM025, SSM098
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)esv2739213
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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