A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12476178



Internal ID1789261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99477134..99477960hg38UCSC Ensembl
Innerchr6:99477184..99477910hg38UCSC Ensembl
Outerchr6:99477025..99478069hg38UCSC Ensembl
chr6:99925010..99925836hg19UCSC Ensembl
Innerchr6:99925060..99925786hg19UCSC Ensembl
Outerchr6:99924901..99925945hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610120
Supporting Variants
SamplesHG01672
Known GenesUSP45
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12476178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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