A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739039



Internal ID10322675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124895240..124895499hg38UCSC Ensembl
Outerchr9:127657519..127657778hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958517, essv6823224, essv6749367, essv6965087, essv6819189
SamplesSSM027, SSM079, SSM026, SSM078, SSM056
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)esv2739039
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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