A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850546



Internal ID10248973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134685356..134685605hg38UCSC Ensembl
Outerchr9:137577202..137577451hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739235, esv2739233
Supporting Variants
SamplesSSM086
Known GenesCOL5A1
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)essv6850546
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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