A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723644



Internal ID9957944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44369475..44369930hg38UCSC Ensembl
Outerchr21:45789358..45789813hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863860, essv6707214, essv6921641, essv6742092, essv6733428, essv6925615, essv6868660, essv6961393, essv6913921, essv6784903, essv6843818, essv6798153, essv6836092, essv6789046
SamplesSSM088, SSM084, SSM047, SSM018, SSM069, SSM026, SSM089, SSM017, SSM001, SSM068, SSM040, SSM082, SSM015, SSM052
Known GenesTRPM2
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)esv2723644
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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