A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723196



Internal ID9957496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16924959..16925402hg38UCSC Ensembl
Outerchr21:18297279..18297722hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972158, essv6909939, essv6925576, essv6692640, essv6906012, essv6875853, essv6836055, essv6807289, essv6793160, essv6675058, essv6801512, essv6954566, essv6946354, essv6696899, essv6853064, essv6797319, essv6950415, essv6668454, essv6789009, essv6859033, essv6941653, essv6933178, essv6874619, essv6892214, essv6725719
SamplesSSM036, SSM071, SSM024, SSM045, SSM011, SSM087, SSM097, SSM013, SSM074, SSM023, SSM028, SSM018, SSM069, SSM031, SSM014, SSM086, SSM072, SSM082, SSM020, SSM037, SSM022, SSM091, SSM070, SSM025, SSM004
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)esv2723196
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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