A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728425



Internal ID10312061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:139026775..139027244hg38UCSC Ensembl
Outerchr4:139947929..139948398hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896483, essv6690073, essv6754191, essv6680033, essv6875389, essv6848482, essv6837051, essv6918334, essv6748433, essv6854607, essv6745608, essv6889831, essv6823020, essv6884553, essv6675587, essv6762381, essv6757121, essv6791854, essv6817693, essv6923596, essv6910919, essv6963019, essv6770400, essv6667330, essv6957307, essv6736647, essv6739604, essv6742806, essv6974025, essv6764746, essv6802275
SamplesSSM059, SSM036, SSM083, SSM027, SSM065, SSM087, SSM097, SSM009, SSM073, SSM050, SSM058, SSM092, SSM029, SSM062, SSM017, SSM001, SSM086, SSM033, SSM015, SSM078, SSM053, SSM005, SSM010, SSM055, SSM004, SSM099, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesCCRN4L
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)esv2728425
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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