A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9845960



Internal ID2774523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6398574..6399551hg38UCSC Ensembl
Innerchr1:6398575..6399551hg38UCSC Ensembl
Outerchr1:6398574..6399552hg38UCSC Ensembl
chr1:6458634..6459611hg19UCSC Ensembl
Innerchr1:6458635..6459611hg19UCSC Ensembl
Outerchr1:6458634..6459612hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585107
Supporting Variants
SamplesHG02445
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9845960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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