A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12537247



Internal ID3188941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125607005..125609097hg38UCSC Ensembl
Innerchr6:125607021..125609082hg38UCSC Ensembl
Outerchr6:125606990..125609113hg38UCSC Ensembl
chr6:125928151..125930243hg19UCSC Ensembl
Innerchr6:125928167..125930228hg19UCSC Ensembl
Outerchr6:125928136..125930259hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610693
Supporting Variants
SamplesHG02804
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12537247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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