A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727289



Internal ID10310925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22499764..22500888hg38UCSC Ensembl
Outerchr4:22501387..22502511hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854397, essv6848232, essv6860112, essv6934123, essv6724476, essv6973772, essv6757025, essv6739476, essv6700343
SamplesSSM059, SSM087, SSM088, SSM021, SSM029, SSM086, SSM006, SSM007, SSM052
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)esv2727289
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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