A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7748923



Internal ID14154561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56635203..56635204hg38UCSC Ensembl
Innerchr1:56635105..56635302hg38UCSC Ensembl
Outerchr1:56635104..56635303hg38UCSC Ensembl
chr1:57100876..57100877hg19UCSC Ensembl
Innerchr1:57100778..57100975hg19UCSC Ensembl
Outerchr1:57100777..57100976hg19UCSC Ensembl
chr1:56873464..56873465hg18UCSC Ensembl
Innerchr1:56873563..56873366hg18UCSC Ensembl
Outerchr1:56873365..56873564hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307682
Supporting Variants
SamplesNA18571
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7748923
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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