A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12528714



Internal ID2530530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123023959..123025494hg38UCSC Ensembl
Innerchr6:123023993..123025461hg38UCSC Ensembl
Outerchr6:123023926..123025528hg38UCSC Ensembl
chr6:123345104..123346639hg19UCSC Ensembl
Innerchr6:123345138..123346606hg19UCSC Ensembl
Outerchr6:123345071..123346673hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610621
Supporting Variants
SamplesHG03708
Known GenesCLVS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12528714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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