A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574740



Internal ID3772375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143554635..143556416hg38UCSC Ensembl
Innerchr6:143554647..143556405hg38UCSC Ensembl
Outerchr6:143554624..143556428hg38UCSC Ensembl
chr6:143875772..143877553hg19UCSC Ensembl
Innerchr6:143875784..143877542hg19UCSC Ensembl
Outerchr6:143875761..143877565hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381782
hg191782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611097
Supporting Variants
SamplesHG03410
Known GenesLOC285740
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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