A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721726



Internal ID9956024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237542906..237545186hg38UCSC Ensembl
Outerchr2:238451549..238453829hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382281
hg192281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955576, essv6722455, essv6889431, essv6683244, essv6968466, essv6750962, essv6718607, essv6922242, essv6962336, essv6726310, essv6889433, essv6804788, essv6777404, essv6910539, essv6836638, essv6899000, essv6669750, essv6773887, essv6853971, essv6730066, essv6762126, essv6933811, essv6762127, essv6880898, essv6770011, essv6785519, essv6914381, essv6722421
SamplesSSM065, SSM007, SSM027, SSM031, SSM016, SSM057, SSM045, SSM067, SSM083, SSM097, SSM062, SSM012, SSM100, SSM066, SSM028, SSM047, SSM069, SSM021, SSM034, SSM087, SSM046, SSM044, SSM074, SSM015, SSM026, SSM018
Known GenesMLPH
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721726
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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