A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2746510

Internal ID9980794
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123752567..123753514hg38UCSC Ensembl
Outerchr12:124237114..124238061hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2746510
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0

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