A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701411



Internal ID13643506
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 Flag0
Merged StatusS
Merged Variantsesv3364340
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701411
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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