A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746209



Internal ID10327179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93073033..93073818hg38UCSC Ensembl
Outerchr12:93466809..93467594hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744069, essv6775747, essv6835242, essv6791894, essv6787806, essv6936183, essv6823674, essv6755608, essv6819757, essv6752615, essv6681624, essv6673229, essv6851270, essv6691653, essv6779513, essv6945006, essv6765805, essv6971784, essv6815514, essv6772553, essv6796085, essv6912654, essv6862454, essv6783606, essv6728378, essv6949136, essv6809422, essv6931893, essv6741110, essv6698784, essv6831351, essv6940386, essv6806131, essv6842477, essv6953279, essv6857278, essv6959343, essv6876702, essv6702502, essv6908932, essv6706261, essv6920234, essv6800264, essv6695597, essv6737939, essv6732174, essv6761022, essv6924399
SamplesSSM036, SSM008, SSM071, SSM024, SSM075, SSM046, SSM079, SSM087, SSM038, SSM039, SSM009, SSM050, SSM088, SSM057, SSM023, SSM058, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM026, SSM017, SSM031, SSM067, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM078, SSM053, SSM037, SSM077, SSM022, SSM010, SSM070, SSM025, SSM004, SSM052, SSM063
Known GenesLOC643339
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)esv2746209
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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