A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793972



Internal ID10200535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:154378965..154379265hg38UCSC Ensembl
Outerchr3:154096754..154097054hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726081
Supporting Variants
SamplesSSM071
Known GenesGPR149
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)essv6793972
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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