A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12205099



Internal ID504782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17949315..17951700hg38UCSC Ensembl
Innerchr6:17949315..17951700hg38UCSC Ensembl
Outerchr6:17949183..17951843hg38UCSC Ensembl
chr6:17949546..17951931hg19UCSC Ensembl
Innerchr6:17949546..17951931hg19UCSC Ensembl
Outerchr6:17949414..17952074hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608227
Supporting Variants
SamplesHG00180
Known GenesKIF13A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12205099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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