A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12581404



Internal ID5072813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151043861..151046942hg38UCSC Ensembl
Innerchr6:151043861..151046942hg38UCSC Ensembl
Outerchr6:151043726..151047067hg38UCSC Ensembl
chr6:151364997..151368078hg19UCSC Ensembl
Innerchr6:151364997..151368078hg19UCSC Ensembl
Outerchr6:151364862..151368203hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383082
hg193082
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611246
Supporting Variants
SamplesNA18541
Known GenesMTHFD1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12581404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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