A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594817



Internal ID6982137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078175..241078916hg38UCSC Ensembl
Innerchr2:241078295..241078750hg38UCSC Ensembl
Outerchr2:241077964..241079127hg38UCSC Ensembl
chr2:242017590..242018331hg19UCSC Ensembl
Innerchr2:242017710..242018165hg19UCSC Ensembl
Outerchr2:242017379..242018542hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10891628, essv10891618, essv10891624, essv10891610, essv10891607, essv10891614, essv10891632, essv10891608, essv10891605, essv10891603, essv10891616, essv10891623, essv10891601, essv10891622, essv10891635, essv10891612, essv10891633, essv10891625, essv10891631, essv10891627, essv10891604, essv10891609, essv10891599, essv10891637, essv10891617, essv10891638, essv10891619, essv10891615, essv10891636, essv10891620, essv10891602, essv10891634, essv10891626, essv10891600, essv10891606, essv10891630, essv10891613, essv10891621, essv10891611, essv10891629
SamplesHG02574, HG03052, NA19020, HG03455, HG03518, HG03572, HG03452, HG03091, HG02645, HG02573, HG03054, HG03132, NA19984, HG03547, HG02450, NA18910, HG02497, HG03472, HG03571, NA19395, HG03567, HG02330, HG02799, HG02759, HG03539, NA19835, HG03469, HG03432, HG02974, HG03097, HG03279, HG03060, HG03351, HG03538, HG02051, HG02861, NA18522, HG03118, HG02643, NA19346
Known GenesSNED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594817
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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