A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713969



Internal ID9776387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48669856..48670156hg38UCSC Ensembl
Outerchr19:49173113..49173413hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718681, esv2718680
Supporting Variants
SamplesSSM042
Known GenesNTN5, SEC1P
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)essv6713969
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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