A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718403



Internal ID9952694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28949517..28949965hg38UCSC Ensembl
Outerchr19:29440424..29440872hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932956, essv6961003
SamplesSSM026, SSM020
Known Genes
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)esv2718403
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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