A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609079



Internal ID6996001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55868194..55871609hg38UCSC Ensembl
Innerchr6:55868194..55871609hg38UCSC Ensembl
Outerchr6:55868042..55871787hg38UCSC Ensembl
chr6:55732992..55736407hg19UCSC Ensembl
Innerchr6:55732992..55736407hg19UCSC Ensembl
Outerchr6:55732840..55736585hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg383416
hg193416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12363368, essv12363369
SamplesHG00650, HG00982
Known GenesBMP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609079
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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