A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2727523

Internal ID9961833
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46053943..46056095hg38UCSC Ensembl
Outerchr4:46055960..46058112hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805026, essv6724621, essv6903234, essv6914642, essv6670239, essv6764674, essv6757037, essv6813855, essv6825813, essv6675974, essv6821926, essv6697555, essv6881003, essv6679923, essv6774163, essv6817517, essv6808002, essv6751197, essv6722759, essv6755665, essv6789963, essv6734006, essv6707937, essv6906909, essv6700510, essv6748352, essv6848270, essv6736568, essv6844512, essv6956407, essv6872321, essv6667274, essv6926356, essv6938471, essv6790988, essv6922570, essv6715014, essv6850775, essv6883818, essv6956108, essv6886562, essv6781692, essv6869297, essv6854429, essv6711355, essv6878210, essv6674676, essv6962827, essv6829705, essv6770305, essv6910828, essv6849153, essv6726611, essv6798295, essv6929920, essv6718879, essv6864932, essv6875297, essv6833298, essv6893004, essv6840741, essv6860141, essv6968789, essv6777675
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM082, SSM086, SSM006, SSM091, SSM033, SSM084, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM072, SSM020, SSM016, SSM057, SSM032, SSM045, SSM067, SSM094, SSM050, SSM041, SSM077, SSM005, SSM093, SSM056, SSM085, SSM009, SSM011, SSM066, SSM028, SSM095, SSM030, SSM002, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM059, SSM081, SSM070, SSM080
Known GenesGABRG1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2727523
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0

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