A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727523



Internal ID9961833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46053943..46056095hg38UCSC Ensembl
Outerchr4:46055960..46058112hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg382153
hg192153
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
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)esv2727523
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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