A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12498954



Internal ID2500770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106559337..106560826hg38UCSC Ensembl
Innerchr6:106559337..106560826hg38UCSC Ensembl
Outerchr6:106559259..106560930hg38UCSC Ensembl
chr6:107007212..107008701hg19UCSC Ensembl
Innerchr6:107007212..107008701hg19UCSC Ensembl
Outerchr6:107007134..107008805hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381490
hg191490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610277
Supporting Variants
SamplesNA19429
Known GenesAIM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12498954
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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