A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9749535



Internal ID18723781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1658515..1715888hg38UCSC Ensembl
Outerchr1:1653096..1726348hg38UCSC Ensembl
Innerchr1:1589976..1647327hg19UCSC Ensembl
Outerchr1:1584529..1657787hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3873253
hg1973259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3550788
Supporting Variants
Samples
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2, SLC35E2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9749535
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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