A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12204451



Internal ID6883703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17695998..17698776hg38UCSC Ensembl
Innerchr6:17696048..17698726hg38UCSC Ensembl
Outerchr6:17695940..17698834hg38UCSC Ensembl
chr6:17696229..17699007hg19UCSC Ensembl
Innerchr6:17696279..17698957hg19UCSC Ensembl
Outerchr6:17696171..17699065hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382779
hg192779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608218
Supporting Variants
SamplesNA21102
Known GenesNUP153
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12204451
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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