A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858867



Internal ID9909778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499520..57499580hg38UCSC Ensembl
Outerchr19:58010888..58010948hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071, esv2719074, esv2719079, esv2719080, esv2719076, esv2719072, esv2719078
Supporting Variants
SamplesSSM087
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)essv6858867
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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