A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385019



Internal ID15231989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238484972..238487170hg38UCSC Ensembl
Innerchr2:238485972..238486170hg38UCSC Ensembl
Outerchr2:238483972..238488170hg38UCSC Ensembl
chr2:239393613..239395811hg19UCSC Ensembl
Innerchr2:239394613..239394811hg19UCSC Ensembl
Outerchr2:239392613..239396811hg19UCSC Ensembl
chr2:239058352..239060550hg18UCSC Ensembl
Innerchr2:239059352..239059550hg18UCSC Ensembl
Outerchr2:239057352..239061550hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2370e59
Supporting Variantsessv8693542
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385019
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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