A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718330



Internal ID9952621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21342475..21416097hg38UCSC Ensembl
Outerchr19:21525277..21598899hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3873623
hg1973623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716898, essv6967470, essv6871476, essv6699391, essv6666600, essv6909768, essv6814232, essv6780486, essv6744714, essv6928779, essv6816314
SamplesSSM027, SSM038, SSM009, SSM090, SSM019, SSM067, SSM014, SSM006, SSM053, SSM077, SSM004
Known GenesZNF493, ZNF738
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)esv2718330
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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