A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9928412



Internal ID4953673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50005455..50019011hg38UCSC Ensembl
Innerchr1:50005460..50019007hg38UCSC Ensembl
Outerchr1:50005451..50019016hg38UCSC Ensembl
chr1:50471127..50484683hg19UCSC Ensembl
Innerchr1:50471132..50484679hg19UCSC Ensembl
Outerchr1:50471123..50484688hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3813557
hg1913557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586004
Supporting Variants
SamplesNA12828
Known GenesAGBL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9928412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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