A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933000



Internal ID9694610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50982816..50983060hg38UCSC Ensembl
Outerchr19:51486072..51486316hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718760
Supporting Variants
SamplesSSM020
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)essv6933000
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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