A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723682



Internal ID9957982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44763886..44764689hg38UCSC Ensembl
Outerchr21:46183801..46184604hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961402, essv6843354, essv6967825, essv6863866, essv6689204, essv6941704, essv6668777, essv6880384, essv6742096, essv6933226, essv6925621, essv6832511, essv6750556, essv6836099, essv6668859, essv6843826, essv6898559, essv6813114, essv6744900, essv6868670, essv6666846, essv6718084, essv6954620, essv6816276, essv6874655, essv6928992, essv6921650, essv6816514, essv6801560, essv6784031, essv6937593, essv6913926, essv6793207, essv6906055
SamplesSSM008, SSM027, SSM013, SSM009, SSM093, SSM088, SSM084, SSM021, SSM018, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM081, SSM072, SSM082, SSM020, SSM015, SSM053, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030
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)esv2723682
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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