A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738778



Internal ID9973119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93010466..93010893hg38UCSC Ensembl
Outerchr9:95772748..95773175hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850476, essv6724064, essv6944405, essv6809040, essv6787290, essv6727899, essv6803175, essv6890894, essv6882004, essv6823196, essv6795568, essv6806046, essv6900308, essv6842006
SamplesSSM086, SSM084, SSM071, SSM045, SSM094, SSM097, SSM100, SSM073, SSM069, SSM046, SSM023, SSM079, SSM074, SSM075
Known GenesFGD3
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)esv2738778
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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