A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8932024



Internal ID13919878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112068817..112068838hg38UCSC Ensembl
Innerchr6:112068826..112068829hg38UCSC Ensembl
Outerchr6:112068805..112068850hg38UCSC Ensembl
chr6:112390020..112390041hg19UCSC Ensembl
Innerchr6:112390029..112390032hg19UCSC Ensembl
Outerchr6:112390008..112390053hg19UCSC Ensembl
chr6:112496713..112496734hg18UCSC Ensembl
Innerchr6:112496725..112496722hg18UCSC Ensembl
Outerchr6:112496701..112496746hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38171
hg19171
hg18171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352560
Supporting Variants
SamplesNA18523
Known GenesWISP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8932024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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