A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685895



Internal ID10099550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8449538..8449827hg38UCSC Ensembl
Outerchr19:8514422..8514711hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718124
Supporting Variants
SamplesSSM034
Known GenesHNRNPM
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)essv6685895
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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