A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729746



Internal ID10313382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10755959..10756393hg38UCSC Ensembl
Outerchr5:10756071..10756505hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767306, essv6697733, essv6790262, essv6963271, essv6805204, essv6943067, essv6878408, essv6896570, essv6704774, essv6736752, essv6817858, essv6930201, essv6899457, essv6889947, essv6719162, essv6786127, essv6911061, essv6860476, essv6926581, essv6853098, essv6947558, essv6854818, essv6951626, essv6903491, essv6726873, essv6844692, essv6922803, essv6837192, essv6683757
SamplesSSM100, SSM083, SSM027, SSM024, SSM046, SSM011, SSM064, SSM087, SSM038, SSM097, SSM013, SSM093, SSM050, SSM074, SSM088, SSM023, SSM018, SSM069, SSM019, SSM044, SSM085, SSM040, SSM020, SSM015, SSM078, SSM070, SSM025, SSM034, SSM099
Known GenesDAP
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)esv2729746
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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