A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718294



Internal ID10301930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19723590..19728898hg38UCSC Ensembl
Outerchr19:19834399..19839707hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871471, essv6696686, essv6685905, essv6874154, essv6863581, essv6888770, essv6792908, essv6797102, essv6810124, essv6693876, essv6895556, essv6835857
SamplesSSM071, SSM075, SSM011, SSM088, SSM090, SSM096, SSM082, SSM005, SSM037, SSM070, SSM034, SSM098
Known GenesZNF14
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)esv2718294
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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