A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718515



Internal ID9952806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37259199..37325576hg38UCSC Ensembl
Outerchr19:37750101..37816478hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3866378
hg1966378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756341, essv6909793, essv6781665, essv6816330, essv6682567, essv6666899, essv6758879, essv6820904, essv6696713, essv6914763
SamplesSSM059, SSM008, SSM002, SSM058, SSM014, SSM033, SSM078, SSM037, SSM077, SSM004
Known GenesLOC284412
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)esv2718515
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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