A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785231



Internal ID9656571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93822830..93825544hg38UCSC Ensembl
Outerchr1:94288386..94291100hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382715
hg192715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714895
Supporting Variants
SamplesSSM009
Known GenesBCAR3
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)essv6785231
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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