A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746510



Internal ID9980794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123752567..123753514hg38UCSC Ensembl
Outerchr12:124237114..124238061hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746914, essv6857325, essv6744085, essv6920270, essv6927992, essv6755633, essv6959382, essv6713061, essv6681650, essv6924423, essv6971940, essv6977338, essv6846010, essv6876731, essv6791916, essv6936217, essv6900066, essv6739142, essv6939707, essv6779533, essv6698808, essv6716871, essv6842507, essv6695628, essv6831373, essv6953296, essv6897713, essv6882386, essv6772897, essv6867260, essv6873741, essv6768557, essv6965894, essv6741140, essv6970889, essv6772115, essv6931920, essv6752634, essv6749746, essv6916195, essv6904975, essv6775776, essv6835476, essv6732198, essv6761045, essv6806454, essv6728042, essv6912681, essv6724571, essv6815530
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM043, SSM089, SSM064, SSM025, SSM020, SSM016, SSM057, SSM001, SSM045, SSM067, SSM094, SSM077, SSM012, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM047, SSM021, SSM037, SSM087, SSM038, SSM019, SSM052, SSM004, SSM015, SSM026, SSM008, SSM018, SSM058, SSM081, SSM070
Known GenesATP6V0A2
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)esv2746510
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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