A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12612172



Internal ID6349859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160590787..160595436hg38UCSC Ensembl
Innerchr6:160591287..160594936hg38UCSC Ensembl
Outerchr6:160589787..160596436hg38UCSC Ensembl
chr6:161011819..161016468hg19UCSC Ensembl
Innerchr6:161012319..161015968hg19UCSC Ensembl
Outerchr6:161010819..161017468hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg384650
hg194650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611441
Supporting Variants
SamplesNA20278
Known GenesLPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12612172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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