A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591787



Internal ID6632071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102314919..102320486hg38UCSC Ensembl
Innerchr2:102314919..102320486hg38UCSC Ensembl
Outerchr2:102314679..102320817hg38UCSC Ensembl
chr2:102931379..102936946hg19UCSC Ensembl
Innerchr2:102931379..102936946hg19UCSC Ensembl
Outerchr2:102931139..102937277hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg385568
hg195568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598203, essv10598201, essv10598204, essv10598205, essv10598202
SamplesNA19331, NA19338, NA19378, NA19428, NA19466
Known GenesIL1RL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591787
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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