A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739473



Internal ID9973814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6159776..6160535hg38UCSC Ensembl
Outerchr1:6219836..6220595hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733472, essv6921700, essv6742123, essv6761844, essv6747762, essv6797434, essv6885974, essv6784465, essv6750583, essv6913986, essv6813158, essv6780850, essv6738797, essv6877660, essv6859169, essv6892306, essv6950535, essv6954717, essv6679150, essv6910025, essv6695565, essv6967913, essv6718798, essv6937659, essv6863939, essv6917409, essv6832585, essv6925674, essv6801607, essv6874690, essv6699589, essv6773423, essv6789134, essv6776924, essv6972311, essv6714227, essv6961534
SamplesSSM027, SSM039, SSM009, SSM073, SSM093, SSM088, SSM057, SSM028, SSM092, SSM018, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM067, SSM033, SSM066, SSM006, SSM068, SSM072, SSM082, SSM007, SSM015, SSM016, SSM053, SSM077, SSM022, SSM070, SSM025, SSM043, SSM052, SSM098, SSM049, SSM056
Known GenesCHD5
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)esv2739473
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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