A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079716



Internal ID81532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115045178..115054203hg38UCSC Ensembl
Innerchr1:115045181..115054201hg38UCSC Ensembl
Outerchr1:115045176..115054206hg38UCSC Ensembl
chr1:115587799..115596824hg19UCSC Ensembl
Innerchr1:115587802..115596822hg19UCSC Ensembl
Outerchr1:115587797..115596827hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg389026
hg199026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587278
Supporting Variants
SamplesHG00410
Known GenesTSPAN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079716
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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