A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738711



Internal ID10322347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87857162..87857705hg38UCSC Ensembl
Outerchr9:90472077..90472620hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775288, essv6958449, essv6944394, essv6923839, essv6970273
SamplesSSM023, SSM028, SSM018, SSM026, SSM066
Known Genes
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)esv2738711
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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