A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730848



Internal ID15013800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107901907..107902019hg38UCSC Ensembl
Innerchr7:107901962..107901963hg38UCSC Ensembl
Outerchr7:107901807..107902119hg38UCSC Ensembl
chr7:107542352..107542464hg19UCSC Ensembl
Innerchr7:107542407..107542408hg19UCSC Ensembl
Outerchr7:107542252..107542564hg19UCSC Ensembl
chr7:107329588..107329700hg18UCSC Ensembl
Innerchr7:107329644..107329643hg18UCSC Ensembl
Outerchr7:107329488..107329800hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302680
Supporting Variants
SamplesNA19238
Known GenesDLD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730848
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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