A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895553



Internal ID1993867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30843412..30844480hg38UCSC Ensembl
Innerchr1:30843453..30844440hg38UCSC Ensembl
Outerchr1:30843372..30844521hg38UCSC Ensembl
chr1:31316259..31317327hg19UCSC Ensembl
Innerchr1:31316300..31317287hg19UCSC Ensembl
Outerchr1:31316219..31317368hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585638
Supporting Variants
SamplesHG01848
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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