A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676592



Internal ID15019751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90020571..90020586hg38UCSC Ensembl
Innerchr6:90020568..90020589hg38UCSC Ensembl
Outerchr6:90020553..90020604hg38UCSC Ensembl
chr6:90730290..90730305hg19UCSC Ensembl
Innerchr6:90730287..90730308hg19UCSC Ensembl
Outerchr6:90730272..90730323hg19UCSC Ensembl
chr6:90787011..90787026hg18UCSC Ensembl
Innerchr6:90787029..90787008hg18UCSC Ensembl
Outerchr6:90786993..90787044hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449602
Supporting Variants
SamplesNA19238
Known GenesBACH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676592
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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