A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608312



Internal ID6648551
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12220248, essv12220247
SamplesHG00653, NA19467
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608312
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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