A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611213



Internal ID6651433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149725470..149730333hg38UCSC Ensembl
Innerchr6:149725522..149730281hg38UCSC Ensembl
Outerchr6:149725418..149730385hg38UCSC Ensembl
chr6:150046606..150051469hg19UCSC Ensembl
Innerchr6:150046658..150051417hg19UCSC Ensembl
Outerchr6:150046554..150051521hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg384864
hg194864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12581002
SamplesNA18945
Known GenesNUP43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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