A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718332



Internal ID9952623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21383189..21383687hg38UCSC Ensembl
Outerchr19:21565991..21566489hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967470, essv6871476, essv6699391, essv6666600, essv6909768, essv6814232, essv6780486, essv6928779, essv6816314
SamplesSSM027, SSM038, SSM009, SSM090, SSM019, SSM067, SSM014, SSM077, SSM004
Known GenesZNF738
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)esv2718332
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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