A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718331



Internal ID9952622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21368843..21370035hg38UCSC Ensembl
Outerchr19:21551645..21552837hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744714
SamplesSSM053
Known GenesZNF738
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)esv2718331
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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