A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785125



Internal ID9843409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323863..180324173hg38UCSC Ensembl
Outerchr1:180292998..180293308hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719918
Supporting Variants
SamplesSSM069
Known GenesACBD6
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)essv6785125
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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