A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749348



Internal ID9811340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104833918..104834653hg38UCSC Ensembl
Outerchr9:107596199..107596934hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738878
Supporting Variants
SamplesSSM056
Known GenesABCA1
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)essv6749348
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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