A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728509



Internal ID5039241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:149230671..149230909hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6686915, essv6683640, essv6808113, essv6670474, essv6693762, essv6918349, essv6934270, essv6922688, essv6704649, essv6884675, essv6767219, essv6790118, essv6774266, essv6903371, essv6951502, essv6910926, essv6947419, essv6700609, essv6926470, essv6907094
SamplesSSM013, SSM040, SSM064, SSM031, SSM035, SSM025, SSM039, SSM024, SSM012, SSM017, SSM066, SSM021, SSM037, SSM034, SSM019, SSM075, SSM015, SSM014, SSM018, SSM070
Known GenesNR3C2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2728509
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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