A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825949



Internal ID9880150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112548834..112549115hg38UCSC Ensembl
Outerchr4:113469990..113470271hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728154
Supporting Variants
SamplesSSM080
Known GenesC4orf21
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)essv6825949
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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