A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12464118



Internal ID2644977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93096001..93100500hg38UCSC Ensembl
Innerchr6:93096001..93100500hg38UCSC Ensembl
Outerchr6:93095501..93101000hg38UCSC Ensembl
chr6:93805719..93810218hg19UCSC Ensembl
Innerchr6:93805719..93810218hg19UCSC Ensembl
Outerchr6:93805219..93810718hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609981
Supporting Variants
SamplesHG02339
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12464118
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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