A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773083



Internal ID9831473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4184759..4185367hg38UCSC Ensembl
Outerchr19:4184756..4185364hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717991
Supporting Variants
SamplesSSM065
Known GenesANKRD24
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)essv6773083
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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