A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192531



Internal ID3194347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47965685..47972709hg38UCSC Ensembl
Innerchr8:47965700..47972694hg38UCSC Ensembl
Outerchr8:47965670..47972724hg38UCSC Ensembl
chr8:48878245..48885269hg19UCSC Ensembl
Innerchr8:48878260..48885254hg19UCSC Ensembl
Outerchr8:48878230..48885284hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg387025
hg197025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617106
Supporting Variants
SamplesNA19042
Known GenesMCM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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