A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729711



Internal ID10313347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7907458..7907937hg38UCSC Ensembl
Outerchr5:7907571..7908050hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934425, essv6829923, essv6925819, essv6811076, essv6719158, essv6872508, essv6922799, essv6742911, essv6798563, essv6730633, essv6726868, essv6711603, essv6866042, essv6734176, essv6751369, essv6958429, essv6943060, essv6911056, essv6754293, essv6759802, essv6889940, essv6833557, essv6914869, essv6956547, essv6969088, essv6690194, essv6670689, essv6878404
SamplesSSM036, SSM046, SSM097, SSM093, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM021, SSM047, SSM018, SSM061, SSM026, SSM003, SSM031, SSM044, SSM081, SSM072, SSM082, SSM015, SSM016, SSM053, SSM076, SSM091, SSM004, SSM049
Known Genes
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)esv2729711
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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