A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693528



Internal ID15073269
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 StatusS
Merged Variantsesv3400576
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693528
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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