A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730175



Internal ID10313811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52935641..52936536hg38UCSC Ensembl
Outerchr5:52231471..52232366hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826146, essv6860525, essv6777954, essv6963338, essv6886823, essv6708204, essv6837215, essv6841014, essv6770571, essv6947586, essv6926604, essv6798609, essv6854880, essv6793031, essv6872540, essv6930233, essv6822239, essv6956622, essv6817901, essv6670761, essv6676313, essv6805228, essv6848751, essv6853431, essv6938777, essv6781984, essv6700792, essv6889981, essv6751406, essv6704801, essv6974352, essv6719194, essv6794426, essv6943107, essv6808217, essv6865306, essv6730668, essv6907266, essv6893281, essv6833582, essv6934464, essv6903523
SamplesSSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM074, SSM088, SSM041, SSM057, SSM023, SSM084, SSM021, SSM047, SSM029, SSM096, SSM026, SSM089, SSM019, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM040, SSM072, SSM082, SSM020, SSM078, SSM080, SSM022, SSM091, SSM098
Known GenesITGA1
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)esv2730175
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer