A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6856560



Internal ID9907701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133548998..133549310hg38UCSC Ensembl
Outerchr9:136414120..136414432hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739169, esv2739138
Supporting Variants
SamplesSSM087
Known GenesADAMTSL2
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)essv6856560
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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