A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128243



Internal ID1410311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17135353..17140587hg38UCSC Ensembl
Innerchr8:17135503..17140437hg38UCSC Ensembl
Outerchr8:17135203..17140737hg38UCSC Ensembl
chr8:16992862..16998096hg19UCSC Ensembl
Innerchr8:16993012..16997946hg19UCSC Ensembl
Outerchr8:16992712..16998246hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385235
hg195235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616480
Supporting Variants
SamplesHG01280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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