A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673230



Internal ID13391096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:70861389..70861413hg38UCSC Ensembl
Innerchr15:70861388..70861412hg38UCSC Ensembl
Outerchr15:70861366..70861436hg38UCSC Ensembl
chr15:71153728..71153752hg19UCSC Ensembl
Innerchr15:71153727..71153751hg19UCSC Ensembl
Outerchr15:71153705..71153775hg19UCSC Ensembl
chr15:68940782..68940806hg18UCSC Ensembl
Innerchr15:68940805..68940781hg18UCSC Ensembl
Outerchr15:68940759..68940829hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367202
Supporting Variants
SamplesNA12892
Known GenesLRRC49
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673230
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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