A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593069



Internal ID6980393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158128777..158129717hg38UCSC Ensembl
Innerchr2:158128777..158129717hg38UCSC Ensembl
Outerchr2:158128539..158129948hg38UCSC Ensembl
chr2:158985289..158986229hg19UCSC Ensembl
Innerchr2:158985289..158986229hg19UCSC Ensembl
Outerchr2:158985051..158986460hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10726916, essv10726918, essv10726907, essv10726914, essv10726904, essv10726909, essv10726903, essv10726912, essv10726917, essv10726908, essv10726910, essv10726913, essv10726902, essv10726906, essv10726905, essv10726911, essv10726915
SamplesNA19397, NA20274, HG01366, HG03370, HG02420, NA19247, NA18910, HG02555, HG03388, HG02586, NA19375, NA19331, NA19334, NA19475, NA19376, NA19093, NA18876
Known GenesUPP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593069
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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