A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725960



Internal ID10309596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:137595592..137597653hg38UCSC Ensembl
Outerchr3:137314434..137316495hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg382062
hg192062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707816, essv6951215, essv6730213, essv6918072, essv6854204, essv6739370, essv6804910, essv6754321, essv6878111, essv6781530, essv6968624, essv6840574, essv6751078, essv6723488
SamplesSSM008, SSM087, SSM093, SSM074, SSM041, SSM057, SSM028, SSM084, SSM047, SSM017, SSM068, SSM007, SSM025, SSM052
Known Genes
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)esv2725960
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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