A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9876211



Internal ID6501504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17686591..17692616hg38UCSC Ensembl
Innerchr1:17686613..17692594hg38UCSC Ensembl
Outerchr1:17686569..17692638hg38UCSC Ensembl
chr1:18013086..18019111hg19UCSC Ensembl
Innerchr1:18013108..18019089hg19UCSC Ensembl
Outerchr1:18013064..18019133hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386026
hg196026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585374
Supporting Variants
SamplesHG02016
Known GenesARHGEF10L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9876211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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