A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356892



Internal ID14857155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8009865..8009893hg38UCSC Ensembl
Innerchr7:8009875..8009881hg38UCSC Ensembl
Outerchr7:8009847..8009909hg38UCSC Ensembl
chr7:8049495..8049523hg19UCSC Ensembl
Innerchr7:8049505..8049511hg19UCSC Ensembl
Outerchr7:8049477..8049539hg19UCSC Ensembl
chr7:8016020..8016048hg18UCSC Ensembl
Innerchr7:8016036..8016030hg18UCSC Ensembl
Outerchr7:8016002..8016064hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8934663, essv8934667, essv8934666, essv8934664, essv8934665
SamplesNA18523, NA18516, NA18489, NA18856, NA18853
Known GenesGLCCI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356892
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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