A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738789



Internal ID10322425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93614701..93615103hg38UCSC Ensembl
Outerchr9:96376983..96377385hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923849, essv6931338, essv6958464, essv6724066
SamplesSSM045, SSM018, SSM026, SSM020
Known GenesPHF2
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)esv2738789
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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