A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730053



Internal ID3280549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33973635..33974217hg38UCSC Ensembl
Outerchr5:33973740..33974322hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938764, essv6969119
SamplesSSM022, SSM028
Known GenesSLC45A2
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)esv2730053
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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