A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739058



Internal ID10322694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128118304..128119299hg38UCSC Ensembl
Outerchr9:130880583..130881578hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740711, essv6831919, essv6775318, essv6737594, essv6768220, essv6734914, essv6771648, essv6958520, essv6970325, essv6870438, essv6702009, essv6791415, essv6743725, essv6952780, essv6894285, essv6948624, essv6965088, essv6915771, essv6768190, essv6696376, essv6873386, essv6712637, essv6691242, essv6727934, essv6708599, essv6927560, essv6904521, essv6830919, essv6684710
SamplesSSM036, SSM008, SSM027, SSM024, SSM046, SSM064, SSM065, SSM039, SSM013, SSM050, SSM042, SSM028, SSM090, SSM026, SSM019, SSM001, SSM066, SSM006, SSM081, SSM016, SSM053, SSM005, SSM010, SSM091, SSM070, SSM025, SSM052, SSM098, SSM049
Known GenesLOC100289019
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)esv2739058
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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