A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742985



Internal ID9977269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42787735..43285574hg38UCSC Ensembl
Outerchr19:43291887..43789726hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38497840
hg19497840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523e201
Supporting Variantsessv6932980
SamplesSSM020
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
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)esv2742985
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer