A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896463



Internal ID5536330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32760883..32762864hg38UCSC Ensembl
Innerchr1:32760933..32762814hg38UCSC Ensembl
Outerchr1:32760833..32762914hg38UCSC Ensembl
chr1:33226484..33228465hg19UCSC Ensembl
Innerchr1:33226534..33228415hg19UCSC Ensembl
Outerchr1:33226434..33228515hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381982
hg191982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585676
Supporting Variants
SamplesNA19000
Known GenesKIAA1522
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896463
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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