A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587333



Internal ID6974759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118657080..118679463hg38UCSC Ensembl
Innerchr1:118657580..118678963hg38UCSC Ensembl
Outerchr1:118656080..118680463hg38UCSC Ensembl
chr1:119199703..119222086hg19UCSC Ensembl
Innerchr1:119200203..119221586hg19UCSC Ensembl
Outerchr1:119198703..119223086hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3822384
hg1922384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10083166, essv10083162, essv10083164, essv10083163, essv10083165
SamplesHG02715, HG02442, HG03202, HG03028, HG03049
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587333
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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