A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967957



Internal ID10077006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36267595..36267950hg38UCSC Ensembl
Outerchr1:36733196..36733551hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746830
Supporting Variants
SamplesSSM028
Known GenesTHRAP3
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)essv6967957
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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