A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12323133



Internal ID3354476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39362737..39363538hg38UCSC Ensembl
Innerchr6:39362787..39363488hg38UCSC Ensembl
Outerchr6:39362687..39363588hg38UCSC Ensembl
chr6:39330513..39331314hg19UCSC Ensembl
Innerchr6:39330563..39331264hg19UCSC Ensembl
Outerchr6:39330463..39331364hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608757
Supporting Variants
SamplesHG03007
Known GenesKIF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12323133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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