A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347430



Internal ID15194412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71723737..71723771hg38UCSC Ensembl
Innerchr6:71723748..71723758hg38UCSC Ensembl
Outerchr6:71723714..71723794hg38UCSC Ensembl
chr6:72433440..72433474hg19UCSC Ensembl
Innerchr6:72433451..72433461hg19UCSC Ensembl
Outerchr6:72433417..72433497hg19UCSC Ensembl
chr6:72490161..72490195hg18UCSC Ensembl
Innerchr6:72490182..72490172hg18UCSC Ensembl
Outerchr6:72490138..72490218hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8930564, essv8930563
SamplesNA18907, NA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347430
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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