A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852780



Internal ID9904298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19983764..20586114hg38UCSC Ensembl
Outerchr19:20094573..20768920hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38602351
hg19674348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718302, esv2718297
Supporting Variants
SamplesSSM086
Known GenesMIR1270-1, MIR1270-2, ZNF486, ZNF682, ZNF737, ZNF826P, ZNF90
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)essv6852780
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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