A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586052



Internal ID6973571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52559677..52561564hg38UCSC Ensembl
Innerchr1:52559677..52561564hg38UCSC Ensembl
Outerchr1:52559362..52561887hg38UCSC Ensembl
chr1:53025349..53027236hg19UCSC Ensembl
Innerchr1:53025349..53027236hg19UCSC Ensembl
Outerchr1:53025034..53027559hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381888
hg191888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929393, essv9929394, essv9929389, essv9929385, essv9929376, essv9929388, essv9929383, essv9929380, essv9929381, essv9929382, essv9929379, essv9929387, essv9929391, essv9929390, essv9929392, essv9929378, essv9929384, essv9929377, essv9929386
SamplesHG02652, NA12813, HG03645, HG03706, NA20911, HG03234, NA20812, HG01176, HG04185, HG03832, NA21119, HG03713, NA21142, HG04200, NA20851, HG02696, HG01086, HG04015, NA21090
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586052
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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