A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779932



Internal ID9637674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621555..14623352hg38UCSC Ensembl
Outerchr19:14732367..14734164hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718218
Supporting Variants
SamplesSSM001
Known GenesEMR3
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)essv6779932
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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