A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739359



Internal ID10322995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136403093..136404131hg38UCSC Ensembl
Outerchr9:139297545..139298583hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734928, essv6811930, essv6935686, essv6866644, essv6965133, essv6968229, essv6775346, essv6791446, essv6763138, essv6912206, essv6749392, essv6716374, essv6976401, essv6697820, essv6861906
SamplesSSM027, SSM088, SSM021, SSM029, SSM062, SSM089, SSM001, SSM066, SSM015, SSM076, SSM070, SSM004, SSM043, SSM049, SSM056
Known GenesSDCCAG3
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)esv2739359
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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