A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860270



Internal ID10259946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107053168..107053307hg38UCSC Ensembl
Outerchr4:107974325..107974464hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728111, esv2728110
Supporting Variants
SamplesSSM088
Known Genes
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)essv6860270
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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