A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718767



Internal ID9953059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51078981..51079179hg38UCSC Ensembl
Outerchr19:51582238..51582436hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954403
SamplesSSM025
Known GenesKLK14
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)esv2718767
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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