A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727991



Internal ID9962303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:94860812..94861048hg38UCSC Ensembl
Outerchr4:95781963..95782199hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715077, essv6938535
SamplesSSM022, SSM043
Known GenesBMPR1B
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)esv2727991
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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