A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768220



Internal ID10001062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128118537..128119163hg38UCSC Ensembl
Outerchr9:130880816..130881442hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739058
Supporting Variants
SamplesSSM008
Known GenesLOC100289019
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)essv6768220
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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