A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6875348



Internal ID10271296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:97433133..97438034hg38UCSC Ensembl
Outerchr4:98354284..98359185hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384902
hg194902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728023
Supporting Variants
SamplesSSM092
Known GenesSTPG2-AS1
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)essv6875348
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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