A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608501



Internal ID6648739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29993471..30001275hg38UCSC Ensembl
Innerchr6:29993971..30000775hg38UCSC Ensembl
Outerchr6:29992471..30002275hg38UCSC Ensembl
chr6:29961248..29969052hg19UCSC Ensembl
Innerchr6:29961748..29968552hg19UCSC Ensembl
Outerchr6:29960248..29970052hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg387805
hg197805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12247806
SamplesHG02789
Known GenesZNRD1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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