A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12498956



Internal ID3192789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106597568..106601241hg38UCSC Ensembl
Innerchr6:106597610..106601200hg38UCSC Ensembl
Outerchr6:106597527..106601283hg38UCSC Ensembl
chr6:107045443..107049116hg19UCSC Ensembl
Innerchr6:107045485..107049075hg19UCSC Ensembl
Outerchr6:107045402..107049158hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383674
hg193674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610278
Supporting Variants
SamplesHG02807
Known GenesRTN4IP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12498956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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