A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593383



Internal ID6980707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173426034..173432460hg38UCSC Ensembl
Innerchr2:173426040..173432455hg38UCSC Ensembl
Outerchr2:173426029..173432466hg38UCSC Ensembl
chr2:174290762..174297188hg19UCSC Ensembl
Innerchr2:174290768..174297183hg19UCSC Ensembl
Outerchr2:174290757..174297194hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386427
hg196427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10762920, essv10762919, essv10762917, essv10762918, essv10762921, essv10762916
SamplesNA21089, NA21106, HG03491, HG04054, HG04014, HG01583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593383
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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