A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745839



Internal ID10326809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45038151..45039001hg38UCSC Ensembl
Outerchr12:45431934..45432784hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888014, essv6819714, essv6876677, essv6796046, essv6768515, essv6772165, essv6787771, essv6953244, essv6791871, essv6677834, essv6940355, essv6735199, essv6752582, essv6779474, essv6728346, essv6744036, essv6772063, essv6939196, essv6927950, essv6916139, essv6755564, essv6965793, essv6831319, essv6709513, essv6971518, essv6970826, essv6920198, essv6959291, essv6724518, essv6760988, essv6783579, essv6857225, essv6977214, essv6845963, essv6882333, essv6805865, essv6758237, essv6732147
SamplesSSM059, SSM008, SSM071, SSM027, SSM045, SSM046, SSM064, SSM065, SSM087, SSM009, SSM041, SSM057, SSM058, SSM028, SSM092, SSM047, SSM069, SSM061, SSM029, SSM096, SSM026, SSM017, SSM019, SSM094, SSM032, SSM003, SSM067, SSM085, SSM068, SSM081, SSM078, SSM016, SSM053, SSM022, SSM070, SSM025, SSM004, SSM049
Known GenesDBX2
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)esv2745839
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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