A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727528



Internal ID9961838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47485566..47486089hg38UCSC Ensembl
Outerchr4:47487583..47488106hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918222, essv6934142, essv6910830, essv6848272, essv6693635, essv6791010, essv6711361, essv6926357, essv6789965, essv6922572, essv6715017, essv6670240, essv6774164, essv6938472, essv6785855, essv6840743, essv6903236, essv6942728, essv6947291, essv6770306, essv6675977
SamplesSSM065, SSM022, SSM013, SSM086, SSM084, SSM042, SSM043, SSM031, SSM032, SSM024, SSM017, SSM009, SSM066, SSM069, SSM021, SSM037, SSM019, SSM023, SSM015, SSM018, SSM070
Known GenesATP10D
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)esv2727528
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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