A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657165



Internal ID9576584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542573..237544979hg38UCSC Ensembl
Outerchr2:237542202..237545349hg38UCSC Ensembl
Innerchr2:238451216..238453622hg19UCSC Ensembl
Outerchr2:238450845..238453992hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5618745, essv5431307, essv5977008, essv5756753, essv5454290, essv6500503, essv5514378, essv6017412, essv5626102, essv5890881, essv5771518, essv5559421, essv5618429, essv5879455, essv5479423, essv5575626, essv6088151, essv5870395, essv5633994, essv5980077, essv5794277, essv5526826, essv6453038, essv6457846, essv5738159, essv5900543, essv5989997, essv6430298, essv5626813, essv6032848, essv6110072, essv6378775, essv6352133, essv6453635, essv6377834, essv6429754, essv5609520, essv6137580, essv6107077, essv5773464, essv5724491, essv5540280, essv5936762, essv5563037, essv6582614, essv5773755, essv6124024
SamplesNA19783, NA19782, NA19685, NA19648, NA19651, NA19678, NA19682, NA19780, NA19761, NA19776, NA19762, NA19726, NA19652, NA19660, NA19675, NA19722, NA19774, NA19773, NA19681, NA19663, NA19679, NA19728, NA19676, NA19725, NA19785, NA19759, NA19771, NA19716, NA19657, NA19731, NA19664, NA19720, NA19789, NA19729, NA19723, NA19719, NA19755, NA19770, NA19749, NA19717, NA19655, NA19756, NA19758, NA19750, NA19661, NA19779, NA19746
Known GenesMLPH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657165
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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