A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388957



Internal ID15235924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:15704076..15704103hg38UCSC Ensembl
Innerchr7:15704087..15704092hg38UCSC Ensembl
Outerchr7:15704060..15704119hg38UCSC Ensembl
chr7:15743701..15743728hg19UCSC Ensembl
Innerchr7:15743712..15743717hg19UCSC Ensembl
Outerchr7:15743685..15743744hg19UCSC Ensembl
chr7:15710226..15710253hg18UCSC Ensembl
Innerchr7:15710242..15710237hg18UCSC Ensembl
Outerchr7:15710210..15710269hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382021
hg192021
hg182021
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8934787, essv8934788
SamplesNA18907, NA18499
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388957
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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