A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9845182



Internal ID4332022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5003228..5003829hg38UCSC Ensembl
Innerchr1:5003229..5003829hg38UCSC Ensembl
Outerchr1:5003228..5003830hg38UCSC Ensembl
chr1:5063288..5063889hg19UCSC Ensembl
Innerchr1:5063289..5063889hg19UCSC Ensembl
Outerchr1:5063288..5063890hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585082
Supporting Variants
SamplesHG03873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9845182
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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