A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12557513



Internal ID2674612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133707783..133715120hg38UCSC Ensembl
Innerchr6:133707783..133715120hg38UCSC Ensembl
Outerchr6:133707503..133715392hg38UCSC Ensembl
chr6:134028921..134036258hg19UCSC Ensembl
Innerchr6:134028921..134036258hg19UCSC Ensembl
Outerchr6:134028641..134036530hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387338
hg197338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610862
Supporting Variants
SamplesHG02371
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12557513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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