A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894725



Internal ID3303994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28326491..28328601hg38UCSC Ensembl
Innerchr1:28326517..28328575hg38UCSC Ensembl
Outerchr1:28326465..28328627hg38UCSC Ensembl
chr1:28653002..28655112hg19UCSC Ensembl
Innerchr1:28653028..28655086hg19UCSC Ensembl
Outerchr1:28652976..28655138hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382111
hg192111
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585578
Supporting Variants
SamplesHG02944
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894725
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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