A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852798



Internal ID9904314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28284675..28285039hg38UCSC Ensembl
Outerchr19:28775582..28775946hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718392, esv2718391
Supporting Variants
SamplesSSM086
Known Genes
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)essv6852798
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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