A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6840822



Internal ID10240221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:97433141..97438074hg38UCSC Ensembl
Outerchr4:98354292..98359225hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384934
hg194934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728023
Supporting Variants
SamplesSSM084
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)essv6840822
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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