A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728521



Internal ID10312157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:149239883..149240224hg38UCSC Ensembl
Outerchr4:150161035..150161376hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675687, essv6683642, essv6808116, essv6794278, essv6785996, essv6938598, essv6854623, essv6822080, essv6813979, essv6697648, essv6899368, essv6852142, essv6956327, essv6825992, essv6889845, essv6829813, essv6907097, essv6886696, essv6790122, essv6930049, essv6865122, essv6893133, essv6693764, essv6963037, essv6811001, essv6777783, essv6848503, essv6860337, essv6715122, essv6781823, essv6676140, essv6974046, essv6690082, essv6922691, essv6670479, essv6837063, essv6708071, essv6719028
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM011, SSM079, SSM087, SSM038, SSM097, SSM088, SSM041, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM020, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM070, SSM034, SSM043, SSM098
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)esv2728521
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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