A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696774



Internal ID9763157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499240..57499497hg38UCSC Ensembl
Outerchr19:58010608..58010865hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071, esv2719074, esv2719072
Supporting Variants
SamplesSSM037
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)essv6696774
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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