A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257974



Internal ID6319999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185876645..185880175hg38UCSC Ensembl
Innerchr3:185876695..185880125hg38UCSC Ensembl
Outerchr3:185876595..185880225hg38UCSC Ensembl
chr3:185594433..185597963hg19UCSC Ensembl
Innerchr3:185594483..185597913hg19UCSC Ensembl
Outerchr3:185594383..185598013hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg383531
hg193531
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598977
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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