A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691750



Internal ID15108063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109697207..109700905hg38UCSC Ensembl
Innerchr1:109698207..109699905hg38UCSC Ensembl
Outerchr1:109696207..109701905hg38UCSC Ensembl
chr1:110239829..110243527hg19UCSC Ensembl
Innerchr1:110240829..110242527hg19UCSC Ensembl
Outerchr1:110238829..110244527hg19UCSC Ensembl
chr1:110041352..110045050hg18UCSC Ensembl
Innerchr1:110042352..110044050hg18UCSC Ensembl
Outerchr1:110040352..110046050hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3379792
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691750
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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