A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12546261



Internal ID1197915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129999241..130001259hg38UCSC Ensembl
Innerchr6:129999241..130001259hg38UCSC Ensembl
Outerchr6:129999009..130001505hg38UCSC Ensembl
chr6:130320386..130322404hg19UCSC Ensembl
Innerchr6:130320386..130322404hg19UCSC Ensembl
Outerchr6:130320154..130322650hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg382019
hg192019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610780
Supporting Variants
SamplesHG01070
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12546261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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