A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920993



Internal ID6546286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42949985..42950681hg38UCSC Ensembl
Innerchr1:42949985..42950681hg38UCSC Ensembl
Outerchr1:42949916..42950756hg38UCSC Ensembl
chr1:43415656..43416352hg19UCSC Ensembl
Innerchr1:43415656..43416352hg19UCSC Ensembl
Outerchr1:43415587..43416427hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585860
Supporting Variants
SamplesNA19700
Known GenesSLC2A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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