A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618786



Internal ID7005668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127938660..127947834hg38UCSC Ensembl
Innerchr8:127938660..127947834hg38UCSC Ensembl
Outerchr8:127938160..127948334hg38UCSC Ensembl
chr8:128950906..128960080hg19UCSC Ensembl
Innerchr8:128950906..128960080hg19UCSC Ensembl
Outerchr8:128950406..128960580hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg389175
hg199175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13322976, essv13322975, essv13322974, essv13322973, essv13322979, essv13322977, essv13322978
SamplesNA18530, HG01840, HG00182, HG00596, HG00428, HG02081, HG01878
Known GenesPVT1, TMEM75
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618786
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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