A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12213539



Internal ID2631921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19223343..19249447hg38UCSC Ensembl
Innerchr6:19223493..19249297hg38UCSC Ensembl
Outerchr6:19223193..19249597hg38UCSC Ensembl
chr6:19223574..19249678hg19UCSC Ensembl
Innerchr6:19223724..19249528hg19UCSC Ensembl
Outerchr6:19223424..19249828hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3826105
hg1926105
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608267
Supporting Variants
SamplesHG02325
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12213539
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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