A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13196960



Internal ID1285819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50239919..50286578hg38UCSC Ensembl
Innerchr8:50239928..50286570hg38UCSC Ensembl
Outerchr8:50239911..50286587hg38UCSC Ensembl
chr8:51152479..51199138hg19UCSC Ensembl
Innerchr8:51152488..51199130hg19UCSC Ensembl
Outerchr8:51152471..51199147hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3846660
hg1946660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617165
Supporting Variants
SamplesHG01131
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13196960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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