A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12453896



Internal ID6628353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82702029..82705221hg38UCSC Ensembl
Innerchr6:82702048..82705203hg38UCSC Ensembl
Outerchr6:82702011..82705240hg38UCSC Ensembl
chr6:83411746..83414938hg19UCSC Ensembl
Innerchr6:83411765..83414920hg19UCSC Ensembl
Outerchr6:83411728..83414957hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383193
hg193193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609765
Supporting Variants
SamplesNA20790
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12453896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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