A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586936



Internal ID6627244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100283421..100284528hg38UCSC Ensembl
Innerchr1:100283471..100284478hg38UCSC Ensembl
Outerchr1:100283314..100284635hg38UCSC Ensembl
chr1:100748977..100750084hg19UCSC Ensembl
Innerchr1:100749027..100750034hg19UCSC Ensembl
Outerchr1:100748870..100750191hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381108
hg191108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10029879
SamplesHG01101
Known GenesRTCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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