A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723409



Internal ID9957709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37756874..37757497hg38UCSC Ensembl
Outerchr21:39129177..39129800hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824869, essv6961356, essv6906033, essv6917330, essv6967785, essv6733402, essv6843797, essv6725741, essv6839861, essv6946383, essv6679057, essv6895766, essv6836068, essv6941674, essv6718062, essv6913898, essv6793181, essv6816497, essv6675089, essv6714137, essv6954586, essv6784873, essv6797337, essv6828910, essv6710506, essv6729521, essv6876030, essv6868641, essv6950436, essv6972189
SamplesSSM022, SSM027, SSM013, SSM082, SSM084, SSM042, SSM043, SSM089, SSM031, SSM025, SSM071, SSM016, SSM032, SSM024, SSM045, SSM083, SSM041, SSM077, SSM011, SSM028, SSM047, SSM046, SSM023, SSM079, SSM068, SSM015, SSM026, SSM098, SSM070, SSM080
Known GenesKCNJ6
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)esv2723409
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer