A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12200627



Internal ID2202443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16258940..16264662hg38UCSC Ensembl
chr6:16259171..16264893hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385723
hg195723
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608192
Supporting Variants
SamplesHG02146
Known GenesGMPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12200627
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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