A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409693



Internal ID15256653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56635226..56635307hg38UCSC Ensembl
Innerchr1:56635245..56635288hg38UCSC Ensembl
Outerchr1:56635164..56635369hg38UCSC Ensembl
chr1:57100899..57100980hg19UCSC Ensembl
Innerchr1:57100918..57100961hg19UCSC Ensembl
Outerchr1:57100837..57101042hg19UCSC Ensembl
chr1:56873487..56873568hg18UCSC Ensembl
Innerchr1:56873549..56873506hg18UCSC Ensembl
Outerchr1:56873425..56873630hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899017, essv8899019, essv8899018, essv8899016, essv8899020
SamplesNA18916, NA18571, NA18638, NA19108, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409693
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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