A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721552



Internal ID5068842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228058633..228058928hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6669732, essv6872075, essv6840426, essv6859757, essv6726300, essv6714690, essv6730051, essv6789638, essv6704248, essv6946965, essv6898985, essv6833013, essv6804771, essv6847766, essv6848076
SamplesSSM082, SSM086, SSM091, SSM084, SSM040, SSM043, SSM088, SSM031, SSM024, SSM100, SSM011, SSM047, SSM046, SSM074, SSM070
Known GenesCOL4A3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721552
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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