A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10081925



Internal ID6560079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117630392..117631160hg38UCSC Ensembl
Innerchr1:117630414..117631138hg38UCSC Ensembl
Outerchr1:117630370..117631182hg38UCSC Ensembl
chr1:118173014..118173782hg19UCSC Ensembl
Innerchr1:118173036..118173760hg19UCSC Ensembl
Outerchr1:118172992..118173804hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587320
Supporting Variants
SamplesNA20756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10081925
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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