A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721727



Internal ID9956025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237544537..237545205hg38UCSC Ensembl
Outerchr2:238453180..238453848hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683244, essv6789658, essv6777404, essv6836638, essv6714703, essv6914381, essv6722421, essv6730066, essv6748136, essv6804788, essv6762127, essv6955576, essv6910539, essv6820109, essv6922242, essv6880898, essv6973255, essv6770011, essv6722455, essv6711049, essv6773887, essv6698644, essv6883602, essv6892745, essv6700144, essv6926094, essv6853971, essv6785519, essv6899000, essv6718607, essv6707684, essv6829709, essv6704260, essv6750962, essv6933811, essv6889433, essv6844274, essv6669750, essv6968466, essv6742505
SamplesSSM100, SSM083, SSM045, SSM065, SSM087, SSM097, SSM039, SSM074, SSM042, SSM002, SSM041, SSM057, SSM028, SSM021, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM019, SSM031, SSM067, SSM044, SSM066, SSM006, SSM085, SSM040, SSM007, SSM015, SSM016, SSM053, SSM010, SSM070, SSM095, SSM034, SSM043, SSM098, SSM056, SSM012
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)esv2721727
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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