A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915530



Internal ID14866511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135362126..135362156hg38UCSC Ensembl
Innerchr3:135362131..135362149hg38UCSC Ensembl
Outerchr3:135362101..135362179hg38UCSC Ensembl
chr3:135080968..135080998hg19UCSC Ensembl
Innerchr3:135080973..135080991hg19UCSC Ensembl
Outerchr3:135080943..135081021hg19UCSC Ensembl
chr3:136563658..136563688hg18UCSC Ensembl
Innerchr3:136563681..136563663hg18UCSC Ensembl
Outerchr3:136563633..136563711hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442784
Supporting Variants
SamplesNA19114
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915530
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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