A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669074



Internal ID9741645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94477695..94477762hg38UCSC Ensembl
Outerchr1:94943251..94943318hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714973, esv2714951, esv2714962
Supporting Variants
SamplesSSM031
Known GenesABCD3
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)essv6669074
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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