A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836893



Internal ID14691376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112636598..112636599hg38UCSC Ensembl
Innerchr1:112636571..112636626hg38UCSC Ensembl
Outerchr1:112636570..112636627hg38UCSC Ensembl
chr1:113179220..113179221hg19UCSC Ensembl
Innerchr1:113179193..113179248hg19UCSC Ensembl
Outerchr1:113179192..113179249hg19UCSC Ensembl
chr1:112980743..112980744hg18UCSC Ensembl
Innerchr1:112980771..112980716hg18UCSC Ensembl
Outerchr1:112980715..112980772hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310239
Supporting Variants
SamplesNA19239
Known GenesCAPZA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836893
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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