A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12210735



Internal ID5535960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18547206..18550969hg38UCSC Ensembl
Innerchr6:18547218..18550958hg38UCSC Ensembl
Outerchr6:18547195..18550981hg38UCSC Ensembl
chr6:18547437..18551200hg19UCSC Ensembl
Innerchr6:18547449..18551189hg19UCSC Ensembl
Outerchr6:18547426..18551212hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383764
hg193764
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608245
Supporting Variants
SamplesNA19000
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12210735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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