A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863643



Internal ID6488936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15330888..15332965hg38UCSC Ensembl
Innerchr1:15330937..15332917hg38UCSC Ensembl
Outerchr1:15330840..15333014hg38UCSC Ensembl
chr1:15657384..15659461hg19UCSC Ensembl
Innerchr1:15657433..15659413hg19UCSC Ensembl
Outerchr1:15657336..15659510hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585309
Supporting Variants
SamplesNA19703
Known GenesFHAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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