A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723194



Internal ID9957494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16924864..16925716hg38UCSC Ensembl
Outerchr21:18297184..18298036hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666764, essv6972158, essv6909939, essv6925576, essv6692640, essv6906012, essv6875853, essv6836055, essv6807289, essv6793160, essv6675058, essv6801512, essv6902418, essv6742053, essv6954566, essv6946354, essv6696899, essv6853064, essv6797319, essv6950415, essv6668454, essv6913879, essv6789009, essv6859033, essv6937543, essv6941653, essv6682739, essv6933178, essv6874619, essv6892214, essv6921606, essv6776812, essv6725719
SamplesSSM036, SSM071, SSM024, SSM045, SSM011, SSM087, SSM097, SSM013, SSM074, SSM023, SSM028, SSM021, SSM018, SSM069, SSM029, SSM017, SSM031, SSM014, SSM086, SSM033, SSM066, SSM072, SSM082, SSM020, SSM015, SSM037, SSM022, SSM091, SSM070, SSM025, SSM004, SSM052, SSM012
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)esv2723194
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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