A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728780



Internal ID9963095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:176948167..176948476hg38UCSC Ensembl
Outerchr4:177869321..177869630hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860369, essv6974104, essv6711509, essv6956375, essv6889864, essv6826022, essv6700653, essv6722903, essv6794308, essv6833451, essv6670536, essv6786026, essv6881158, essv6852364, essv6697669, essv6704683, essv6808133, essv6817747, essv6676169, essv6848541, essv6790146, essv6805147, essv6811022, essv6865155
SamplesSSM071, SSM075, SSM045, SSM011, SSM038, SSM097, SSM039, SSM074, SSM042, SSM088, SSM069, SSM029, SSM026, SSM089, SSM094, SSM032, SSM031, SSM086, SSM040, SSM082, SSM078, SSM080, SSM076, SSM070
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)esv2728780
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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