A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946078



Internal ID9705940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4011732..4011876hg38UCSC Ensembl
Outerchr19:4011730..4011874hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717982, esv2717980, esv2717979
Supporting Variants
SamplesSSM023
Known GenesPIAS4
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)essv6946078
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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