A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941475



Internal ID10049525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51353425..51353630hg38UCSC Ensembl
Outerchr19:51856679..51856884hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718771, esv2718772
Supporting Variants
SamplesSSM022
Known GenesETFB
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)essv6941475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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