A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965087



Internal ID10071882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124895280..124895441hg38UCSC Ensembl
Outerchr9:127657559..127657720hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739038, esv2739039
Supporting Variants
SamplesSSM027
Known GenesGOLGA1
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)essv6965087
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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