A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574647



Internal ID6812729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142971218..142979552hg38UCSC Ensembl
Innerchr6:142971230..142979540hg38UCSC Ensembl
Outerchr6:142971206..142979564hg38UCSC Ensembl
chr6:143292355..143300689hg19UCSC Ensembl
Innerchr6:143292367..143300677hg19UCSC Ensembl
Outerchr6:143292343..143300701hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg388335
hg198335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611086
Supporting Variants
SamplesNA20895
Known GenesLOC100507489
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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