A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794122



Internal ID9853291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42021837..42022050hg38UCSC Ensembl
Outerchr4:42023854..42024067hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727490
Supporting Variants
SamplesSSM071
Known GenesSLC30A9
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)essv6794122
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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