A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407425



Internal ID15254387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141501994..141502451hg38UCSC Ensembl
Innerchr7:141502044..141502401hg38UCSC Ensembl
Outerchr7:141501944..141502501hg38UCSC Ensembl
chr7:141201794..141202251hg19UCSC Ensembl
Innerchr7:141201844..141202201hg19UCSC Ensembl
Outerchr7:141201744..141202301hg19UCSC Ensembl
chr7:140848263..140848720hg18UCSC Ensembl
Innerchr7:140848313..140848670hg18UCSC Ensembl
Outerchr7:140848213..140848770hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38458
hg19458
hg18458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741287
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407425
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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