A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691748



Internal ID15108086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109692907..109694005hg38UCSC Ensembl
Innerchr1:109693005..109693907hg38UCSC Ensembl
Outerchr1:109691907..109695005hg38UCSC Ensembl
chr1:110235529..110236627hg19UCSC Ensembl
Innerchr1:110235627..110236529hg19UCSC Ensembl
Outerchr1:110234529..110237627hg19UCSC Ensembl
chr1:110037052..110038150hg18UCSC Ensembl
Innerchr1:110038052..110037150hg18UCSC Ensembl
Outerchr1:110036052..110039150hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3378880
Supporting Variants
SamplesNA19240
Known GenesGSTM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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