A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13224292



Internal ID4289172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72738636..72742726hg38UCSC Ensembl
Innerchr8:72738636..72742726hg38UCSC Ensembl
Outerchr8:72738445..72742802hg38UCSC Ensembl
chr8:73650871..73654961hg19UCSC Ensembl
Innerchr8:73650871..73654961hg19UCSC Ensembl
Outerchr8:73650680..73655037hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384091
hg194091
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617618
Supporting Variants
SamplesHG03851
Known GenesKCNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13224292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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