A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801742



Internal ID10206596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197924872..197925179hg38UCSC Ensembl
Outerchr1:197894002..197894309hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721106, esv2721095
Supporting Variants
SamplesSSM073
Known GenesLHX9
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)essv6801742
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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