A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703616



Internal ID9767983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499613..57499758hg38UCSC Ensembl
Outerchr19:58010981..58011126hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071, esv2719082, esv2719074, esv2719076, esv2719072, esv2719078
Supporting Variants
SamplesSSM039
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)essv6703616
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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