A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12456487



Internal ID5350756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87429250..87433611hg38UCSC Ensembl
Innerchr6:87429250..87433611hg38UCSC Ensembl
Outerchr6:87428889..87433824hg38UCSC Ensembl
chr6:88138968..88143329hg19UCSC Ensembl
Innerchr6:88138968..88143329hg19UCSC Ensembl
Outerchr6:88138607..88143542hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384362
hg194362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609865
Supporting Variants
SamplesNA18879
Known GenesC6orf165
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12456487
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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