A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719012



Internal ID10302648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56098546..56098819hg38UCSC Ensembl
Outerchr19:56609915..56610188hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544e201
Supporting Variantsessv6714002, essv6858857, essv6863694, essv6852879, essv6797192, essv6883113, essv6746776, essv6696766, essv6729381
SamplesSSM071, SSM046, SSM087, SSM042, SSM088, SSM094, SSM086, SSM007, SSM037
Known GenesZNF787
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)esv2719012
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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