A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12594529



Internal ID4093119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154739085..154741656hg38UCSC Ensembl
Innerchr6:154739085..154741656hg38UCSC Ensembl
Outerchr6:154738765..154741962hg38UCSC Ensembl
chr6:155060219..155062790hg19UCSC Ensembl
Innerchr6:155060219..155062790hg19UCSC Ensembl
Outerchr6:155059899..155063096hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg382572
hg192572
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611327
Supporting Variants
SamplesHG03717
Known GenesSCAF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12594529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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