A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12461998



Internal ID1071087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:91879637..91883793hg38UCSC Ensembl
Innerchr6:91879637..91883793hg38UCSC Ensembl
Outerchr6:91879413..91884002hg38UCSC Ensembl
chr6:92589355..92593511hg19UCSC Ensembl
Innerchr6:92589355..92593511hg19UCSC Ensembl
Outerchr6:92589131..92593720hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384157
hg194157
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609949
Supporting Variants
SamplesHG00693
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12461998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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