A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9928685



Internal ID6553978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50449761..50452031hg38UCSC Ensembl
Innerchr1:50449792..50452001hg38UCSC Ensembl
Outerchr1:50449731..50452062hg38UCSC Ensembl
chr1:50915433..50917703hg19UCSC Ensembl
Innerchr1:50915464..50917673hg19UCSC Ensembl
Outerchr1:50915403..50917734hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382271
hg192271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586014
Supporting Variants
SamplesNA12273
Known GenesFAF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9928685
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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