A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725914



Internal ID10309550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130628647..130634260hg38UCSC Ensembl
Outerchr3:130347491..130353104hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385614
hg195614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700316, essv6683356, essv6689817, essv6973552, essv6942527, essv6878106, essv6723410, essv6697430, essv6707807, essv6736449, essv6892866, essv6730205, essv6875179, essv6733891, essv6906766, essv6669983, essv6785674, essv6742602, essv6854193, essv6813706, essv6667194, essv6844394, essv6759517, essv6781522, essv6817332, essv6798112, essv6922396, essv6726444, essv6675812, essv6679767, essv6686657, essv6880884, essv6955831, essv6774013, essv6693459, essv6838486, essv6739365, essv6910669, essv6882120, essv6745383, essv6926213, essv6704379, essv6955239, essv6748226, essv6962552, essv6859952, essv6718727, essv6753982, essv6914494, essv6883706, essv6764570, essv6751072, essv6864745, essv6714850, essv6840568, essv6872193, essv6833150, essv6836752, essv6829567, essv6968616, essv6793949, essv6802072, essv6804902, essv6766982, essv6722597, essv6938300
SamplesSSM036, SSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM087, SSM038, SSM039, SSM073, SSM093, SSM050, SSM074, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM077, SSM022, SSM091, SSM055, SSM095, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCOL6A6
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)esv2725914
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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