A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848232



Internal ID10246890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22500456..22500529hg38UCSC Ensembl
Outerchr4:22502079..22502152hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727290, esv2727289
Supporting Variants
SamplesSSM086
Known GenesGPR125
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)essv6848232
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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