A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364340



Internal ID15211318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8691158..8691158hg38UCSC Ensembl
Innerchr2:8691157..8691159hg38UCSC Ensembl
Outerchr2:8691108..8691208hg38UCSC Ensembl
chr2:8831288..8831288hg19UCSC Ensembl
Innerchr2:8831287..8831289hg19UCSC Ensembl
Outerchr2:8831238..8831338hg19UCSC Ensembl
chr2:8748739..8748739hg18UCSC Ensembl
Innerchr2:8748740..8748738hg18UCSC Ensembl
Outerchr2:8748689..8748789hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38206
hg19206
hg18206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701411
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364340
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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