A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848939



Internal ID9900840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179229330..179229430hg38UCSC Ensembl
Outerchr5:178656331..178656431hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731279, esv2731278
Supporting Variants
SamplesSSM086
Known GenesADAMTS2
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)essv6848939
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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