A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836792



Internal ID15037852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103151558..103151559hg38UCSC Ensembl
Innerchr2:103151516..103151601hg38UCSC Ensembl
Outerchr2:103151515..103151602hg38UCSC Ensembl
chr2:103768016..103768017hg19UCSC Ensembl
Innerchr2:103767974..103768059hg19UCSC Ensembl
Outerchr2:103767973..103768060hg19UCSC Ensembl
chr2:103134448..103134449hg18UCSC Ensembl
Innerchr2:103134491..103134406hg18UCSC Ensembl
Outerchr2:103134405..103134492hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309468
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836792
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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