A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9945906



Internal ID6476775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60455778..60456272hg38UCSC Ensembl
Innerchr1:60455828..60456222hg38UCSC Ensembl
Outerchr1:60455728..60456322hg38UCSC Ensembl
chr1:60921450..60921944hg19UCSC Ensembl
Innerchr1:60921500..60921894hg19UCSC Ensembl
Outerchr1:60921400..60921994hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586205
Supporting Variants
SamplesNA20522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9945906
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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