A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9943924



Internal ID6569217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59423863..59469485hg38UCSC Ensembl
Innerchr1:59423863..59469485hg38UCSC Ensembl
Outerchr1:59423363..59469985hg38UCSC Ensembl
chr1:59889535..59935157hg19UCSC Ensembl
Innerchr1:59889535..59935157hg19UCSC Ensembl
Outerchr1:59889035..59935657hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3845623
hg1945623
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586183
Supporting Variants
SamplesHG03681
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9943924
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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