A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658084



Internal ID9924189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141566047..141570953hg38UCSC Ensembl
Outerchr2:141565676..141571323hg38UCSC Ensembl
Innerchr2:142323616..142328522hg19UCSC Ensembl
Outerchr2:142323245..142328892hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736e199
Supporting Variantsessv6539679, essv6027173, essv5993148, essv5790562, essv6183532, essv6542537, essv5637156, essv5534949, essv5515773, essv5472983, essv5808482, essv5700593, essv6551678, essv5956667, essv6101252, essv5556561, essv5609486, essv6051398, essv6013083, essv5690375
SamplesNA11830, NA11995, NA12399, NA12341, NA12813, NA07346, NA12761, NA12282, NA12748, NA10847, NA12777, NA12489, NA12829, NA06989, NA12546, NA12775, NA12272, NA12749, NA11892, NA07000
Known GenesLRP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658084
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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