A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864788



Internal ID13317402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140318366..140318387hg38UCSC Ensembl
Innerchr7:140318332..140318421hg38UCSC Ensembl
Outerchr7:140318311..140318442hg38UCSC Ensembl
chr7:140018166..140018187hg19UCSC Ensembl
Innerchr7:140018132..140018221hg19UCSC Ensembl
Outerchr7:140018111..140018242hg19UCSC Ensembl
chr7:139664635..139664656hg18UCSC Ensembl
Innerchr7:139664690..139664601hg18UCSC Ensembl
Outerchr7:139664580..139664711hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388288
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864788
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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