A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13269719



Internal ID3240372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101986638..101998483hg38UCSC Ensembl
Innerchr8:101986648..101998473hg38UCSC Ensembl
Outerchr8:101986628..101998493hg38UCSC Ensembl
chr8:102998866..103010711hg19UCSC Ensembl
Innerchr8:102998876..103010701hg19UCSC Ensembl
Outerchr8:102998856..103010721hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3811846
hg1911846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618213
Supporting Variants
SamplesHG02854
Known GenesNCALD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13269719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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