A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718364



Internal ID9952655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22895032..22895681hg38UCSC Ensembl
Outerchr19:23077834..23078483hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824651, essv6937320, essv6713945, essv6733167, essv6820884, essv6792919, essv6917115, essv6784649, essv6932946, essv6725498, essv6666440, essv6947629
SamplesSSM045, SSM079, SSM042, SSM021, SSM047, SSM029, SSM003, SSM068, SSM020, SSM078, SSM016, SSM070
Known Genes
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)esv2718364
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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