A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850488



Internal ID10248920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:100009788..100010155hg38UCSC Ensembl
Outerchr9:102772070..102772437hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738832
Supporting Variants
SamplesSSM086
Known GenesERP44
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)essv6850488
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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