A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738710



Internal ID10322346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87759800..87760055hg38UCSC Ensembl
Outerchr9:90374715..90374970hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720257, essv6894255, essv6684700, essv6749338, essv6811897, essv6887653, essv6695049, essv6684421, essv6763094, essv6919680, essv6691206, essv6743692, essv6967673, essv6799743, essv6861833, essv6850467, essv6838194, essv6746496, essv6834490, essv6737558, essv6795558, essv6779001, essv6752221, essv6791379, essv6755179, essv6935604
SamplesSSM036, SSM083, SSM071, SSM050, SSM088, SSM057, SSM058, SSM021, SSM096, SSM062, SSM017, SSM067, SSM044, SSM086, SSM072, SSM082, SSM053, SSM005, SSM037, SSM076, SSM055, SSM070, SSM034, SSM004, SSM098, SSM056
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)esv2738710
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