A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400576



Internal ID15247539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237128470..237131768hg38UCSC Ensembl
Innerchr2:237129470..237130768hg38UCSC Ensembl
Outerchr2:237127470..237132768hg38UCSC Ensembl
chr2:238037113..238040411hg19UCSC Ensembl
Innerchr2:238038113..238039411hg19UCSC Ensembl
Outerchr2:238036113..238041411hg19UCSC Ensembl
chr2:237701852..237705150hg18UCSC Ensembl
Innerchr2:237702852..237704150hg18UCSC Ensembl
Outerchr2:237700852..237706150hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2366e59
Supporting Variantsessv8693528
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400576
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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