A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591117



Internal ID6978445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66388544..66394326hg38UCSC Ensembl
Innerchr2:66388544..66394326hg38UCSC Ensembl
Outerchr2:66388044..66394826hg38UCSC Ensembl
chr2:66615676..66621458hg19UCSC Ensembl
Innerchr2:66615676..66621458hg19UCSC Ensembl
Outerchr2:66615176..66621958hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg385783
hg195783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10530553
SamplesNA21105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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