A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9739358



Internal ID18713604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150411290..150411562hg38UCSC Ensembl
Outerchr1:150411232..150411641hg38UCSC Ensembl
Innerchr1:150383766..150384038hg19UCSC Ensembl
Outerchr1:150383708..150384117hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3540611
Supporting Variants
Samples
Known GenesRPRD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9739358
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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