A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12220249



Internal ID2242450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21716177..21721118hg38UCSC Ensembl
Innerchr6:21716327..21720968hg38UCSC Ensembl
Outerchr6:21716027..21721268hg38UCSC Ensembl
chr6:21716408..21721349hg19UCSC Ensembl
Innerchr6:21716558..21721199hg19UCSC Ensembl
Outerchr6:21716258..21721499hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384942
hg194942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608313
Supporting Variants
SamplesHG02012
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12220249
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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