A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591789



Internal ID6632073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102350972..102353662hg38UCSC Ensembl
Innerchr2:102350972..102353662hg38UCSC Ensembl
Outerchr2:102350816..102353907hg38UCSC Ensembl
chr2:102967432..102970122hg19UCSC Ensembl
Innerchr2:102967432..102970122hg19UCSC Ensembl
Outerchr2:102967276..102970367hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598207
SamplesHG03974
Known GenesIL1RL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591789
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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