A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717841



Internal ID10301477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1368724..1369122hg38UCSC Ensembl
Outerchr19:1368723..1369121hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852727, essv6807113, essv6905790, essv6858672, essv6960911, essv6925306, essv6668692, essv6666342
SamplesSSM087, SSM013, SSM074, SSM018, SSM029, SSM026, SSM086, SSM030
Known GenesMUM1
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)esv2717841
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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