A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10053361



Internal ID55177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108842339..108891089hg38UCSC Ensembl
Innerchr1:108842489..108890939hg38UCSC Ensembl
Outerchr1:108842189..108891239hg38UCSC Ensembl
chr1:109384961..109433711hg19UCSC Ensembl
Innerchr1:109385111..109433561hg19UCSC Ensembl
Outerchr1:109384811..109433861hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3848751
hg1948751
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587140
Supporting Variants
SamplesHG01437
Known GenesAKNAD1, GPSM2, SPATA42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10053361
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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