A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880188



Internal ID9928967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1051258..1051406hg38UCSC Ensembl
Outerchr19:1051257..1051405hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717823, esv2717824
Supporting Variants
SamplesSSM093
Known GenesABCA7
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)essv6880188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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