A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9914522



Internal ID4946427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38136850..38139121hg38UCSC Ensembl
Innerchr1:38136851..38139121hg38UCSC Ensembl
Outerchr1:38136850..38139122hg38UCSC Ensembl
chr1:38602522..38604793hg19UCSC Ensembl
Innerchr1:38602523..38604793hg19UCSC Ensembl
Outerchr1:38602522..38604794hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585763
Supporting Variants
SamplesNA12814
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9914522
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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