A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727063



Internal ID10310699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7676382..7677333hg38UCSC Ensembl
Outerchr4:7678109..7679060hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38952
hg19952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951343, essv6821933, essv6883109, essv6742679, essv6700232, essv6854366, essv6762281, essv6748322, essv6686751, essv6817460, essv6926320, essv6903198, essv6736539, essv6923029, essv6934095, essv6790632, essv6848204, essv6770272, essv6759593, essv6714975, essv6764644, essv6864872, essv6914603, essv6918193, essv6686752, essv6804989, essv6922523, essv6739460, essv6910777, essv6929875, essv6846931, essv6875258, essv6733970, essv6767080
SamplesSSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM074, SSM002, SSM092, SSM021, SSM018, SSM061, SSM062, SSM089, SSM017, SSM019, SSM035, SSM003, SSM086, SSM006, SSM020, SSM015, SSM078, SSM016, SSM053, SSM010, SSM025, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesSORCS2
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)esv2727063
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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