A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591211



Internal ID6978539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70761501..70765246hg38UCSC Ensembl
Innerchr2:70761651..70765096hg38UCSC Ensembl
Outerchr2:70761351..70765396hg38UCSC Ensembl
chr2:70988633..70992378hg19UCSC Ensembl
Innerchr2:70988783..70992228hg19UCSC Ensembl
Outerchr2:70988483..70992528hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383746
hg193746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10537790, essv10537805, essv10537792, essv10537774, essv10537788, essv10537773, essv10537802, essv10537798, essv10537777, essv10537787, essv10537799, essv10537801, essv10537786, essv10537780, essv10537778, essv10537779, essv10537791, essv10537797, essv10537796, essv10537784, essv10537782, essv10537803, essv10537794, essv10537776, essv10537783, essv10537781, essv10537804, essv10537800, essv10537793, essv10537789, essv10537785, essv10537775, essv10537795, essv10537806
SamplesHG03514, HG03280, HG03172, HG02895, HG03436, NA18923, HG03224, NA20287, HG02111, HG01242, NA18868, NA20340, HG02545, HG03267, HG02943, NA19908, HG03132, NA19391, NA19043, NA19118, NA19031, NA19160, NA19095, NA19035, NA19375, HG03367, NA20276, HG01958, HG03313, NA19185, NA19102, NA19116, HG01914, HG03166
Known GenesADD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591211
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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