A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591092



Internal ID6631376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65058496..65060037hg38UCSC Ensembl
Innerchr2:65058496..65060037hg38UCSC Ensembl
Outerchr2:65058172..65060285hg38UCSC Ensembl
chr2:65285630..65287171hg19UCSC Ensembl
Innerchr2:65285630..65287171hg19UCSC Ensembl
Outerchr2:65285306..65287419hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10527215, essv10527210, essv10527213, essv10527217, essv10527218, essv10527211, essv10527209, essv10527214, essv10527212, essv10527216
SamplesHG02810, HG03410, HG03088, NA18486, HG02571, HG03303, HG02561, HG02837, HG02721, HG03449
Known GenesCEP68
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591092
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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