A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10084553



Internal ID86369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119657546..119671023hg38UCSC Ensembl
Innerchr1:119657577..119670992hg38UCSC Ensembl
Outerchr1:119657515..119671054hg38UCSC Ensembl
chr1:120200169..120213646hg19UCSC Ensembl
Innerchr1:120200200..120213615hg19UCSC Ensembl
Outerchr1:120200138..120213677hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3813478
hg1913478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587352
Supporting Variants
SamplesHG02971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10084553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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