A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179411



Internal ID5724727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4169916..4174504hg38UCSC Ensembl
Innerchr6:4169916..4174504hg38UCSC Ensembl
Outerchr6:4169416..4175004hg38UCSC Ensembl
chr6:4170150..4174738hg19UCSC Ensembl
Innerchr6:4170150..4174738hg19UCSC Ensembl
Outerchr6:4169650..4175238hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384589
hg194589
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607941
Supporting Variants
SamplesNA19102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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