A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12503933



Internal ID1792800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111260647..111264325hg38UCSC Ensembl
Innerchr6:111260698..111264275hg38UCSC Ensembl
Outerchr6:111260597..111264376hg38UCSC Ensembl
chr6:111581850..111585528hg19UCSC Ensembl
Innerchr6:111581901..111585478hg19UCSC Ensembl
Outerchr6:111581800..111585579hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383679
hg193679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610378
Supporting Variants
SamplesHG01673
Known GenesKIAA1919
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12503933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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