A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611246



Internal ID6998156
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12581404, essv12581405
SamplesNA19077, NA18541
Known GenesMTHFD1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611246
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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