A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591169



Internal ID6631453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68482860..68489156hg38UCSC Ensembl
Innerchr2:68482866..68489150hg38UCSC Ensembl
Outerchr2:68482854..68489162hg38UCSC Ensembl
chr2:68709992..68716288hg19UCSC Ensembl
Innerchr2:68709998..68716282hg19UCSC Ensembl
Outerchr2:68709986..68716294hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10533817, essv10533818, essv10533820, essv10533815, essv10533816, essv10533821, essv10533814, essv10533813, essv10533819
SamplesHG03518, HG03499, HG02497, HG04054, NA18499, NA19095, HG02501, HG02938, HG02343
Known GenesAPLF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591169
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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