A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693535



Internal ID15117389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238109972..238110670hg38UCSC Ensembl
Innerchr2:238109971..238110671hg38UCSC Ensembl
Outerchr2:238108972..238111670hg38UCSC Ensembl
chr2:239018613..239019311hg19UCSC Ensembl
Innerchr2:239018612..239019312hg19UCSC Ensembl
Outerchr2:239017613..239020311hg19UCSC Ensembl
chr2:238683352..238684050hg18UCSC Ensembl
Innerchr2:238684051..238683351hg18UCSC Ensembl
Outerchr2:238682352..238685050hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3372375
Supporting Variants
SamplesNA19240
Known GenesESPNL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693535
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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