A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948029



Internal ID9642843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50982713..50983124hg38UCSC Ensembl
Outerchr19:51485969..51486380hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718760
Supporting Variants
SamplesSSM003
Known GenesKLK7
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)essv6948029
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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