A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12220247



Internal ID2222063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21675564..21683456hg38UCSC Ensembl
Innerchr6:21675714..21683306hg38UCSC Ensembl
Outerchr6:21675414..21683606hg38UCSC Ensembl
chr6:21675795..21683687hg19UCSC Ensembl
Innerchr6:21675945..21683537hg19UCSC Ensembl
Outerchr6:21675645..21683837hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg387893
hg197893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608312
Supporting Variants
SamplesHG00653
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12220247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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