A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714962



Internal ID9949247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94477675..94477809hg38UCSC Ensembl
Outerchr1:94943231..94943365hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669074, essv6906171
SamplesSSM031, SSM014
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)esv2714962
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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