A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718060



Internal ID10301696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6152043..6152782hg38UCSC Ensembl
Outerchr19:6152054..6152793hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858697, essv6863558, essv6820836, essv6835836, essv6868366, essv6967425, essv6666380, essv6766316, essv6932915, essv6674750, essv6852751
SamplesSSM027, SSM087, SSM088, SSM029, SSM089, SSM031, SSM086, SSM082, SSM020, SSM078, SSM063
Known GenesACSBG2
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)esv2718060
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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