A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747640



Internal ID10328610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:73500769..73501096hg38UCSC Ensembl
Outerchr13:74074906..74075233hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713159, essv6691762, essv6842626, essv6835038, essv6924516, essv6882463, essv6812349, essv6695750, essv6815609, essv6909051, essv6888131, essv6819918, essv6673433, essv6823811, essv6796208, essv6900757, essv6728495, essv6857483, essv6851480, essv6879604, essv6809524, essv6685233, essv6891431, essv6806515, essv6966094, essv6862601, essv6870852
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM046, SSM079, SSM087, SSM097, SSM093, SSM074, SSM042, SSM088, SSM084, SSM090, SSM018, SSM096, SSM094, SSM031, SSM014, SSM086, SSM082, SSM078, SSM037, SSM077, SSM076, SSM034
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)esv2747640
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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